SNP Links for Protein (Select 1005136635) - SNP

Links from Protein

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Select item 14877072631.

rs1487707263 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:108903231 (GRCh38)
1:109445853 (GRCh37)
Canonical SPDI:: NC_000001.11:108903230:A:G
Gene:: GPSM2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.108903231A>G, NC_000001.10:g.109445853A>G, NG_028108.2:g.32882A>G, NM_013296.5:c.1059A>G, NM_013296.4:c.1059A>G, NM_001321039.3:c.1059A>G, NM_001321039.2:c.1059A>G, NM_001321039.1:c.1059A>G, NM_001321038.2:c.1059A>G, NM_001321038.1:c.1059A>G, XM_011541302.4:c.1059A>G, XM_011541302.3:c.1059A>G, XM_011541302.2:c.1059A>G, XM_011541302.1:c.1059A>G, XM_006710589.4:c.1002A>G, XM_006710589.3:c.1002A>G, XM_006710589.2:c.1002A>G, XM_006710589.1:c.1002A>G, XM_011541303.4:c.1059A>G, XM_011541303.3:c.1059A>G, XM_011541303.2:c.1059A>G, XM_011541303.1:c.1059A>G, XM_017001097.3:c.1059A>G, XM_017001097.2:c.1059A>G, XM_017001097.1:c.1059A>G, XM_017001098.3:c.1059A>G, XM_017001098.2:c.1059A>G, XM_017001098.1:c.1059A>G, XM_047418723.1:c.1059A>G, XM_047418724.1:c.1059A>G

Select item 14872163442.

rs1487216344 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:108929855 (GRCh38)
1:109472477 (GRCh37)
Canonical SPDI:: NC_000001.11:108929854:A:C
Gene:: CLCC1 (Varview), GPSM2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.108929855A>C, NC_000001.10:g.109472477A>C, NG_028108.2:g.59506A>C, NM_013296.5:c.1970A>C, NM_013296.4:c.1970A>C, NM_001321039.3:c.1970A>C, NM_001321039.2:c.1970A>C, NM_001321039.1:c.1970A>C, NM_001321038.2:c.1970A>C, NM_001321038.1:c.1970A>C, NM_015127.5:c.*2692T>G, NM_015127.4:c.*2692T>G, XM_011541302.4:c.1970A>C, XM_011541302.3:c.1970A>C, XM_011541302.2:c.1970A>C, XM_011541302.1:c.1970A>C, XM_006710589.4:c.1913A>C, XM_006710589.3:c.1913A>C, XM_006710589.2:c.1913A>C, XM_006710589.1:c.1913A>C, XM_017001097.3:c.1970A>C, XM_017001097.2:c.1970A>C, XM_017001097.1:c.1970A>C, XM_017001098.3:c.1970A>C, XM_017001098.2:c.1970A>C, XM_017001098.1:c.1970A>C, NM_001048210.3:c.*2692T>G, NM_001048210.2:c.*2692T>G, NM_001278202.2:c.*2692T>G, NM_001278202.1:c.*2692T>G, XM_047418723.1:c.1970A>C, XM_047418724.1:c.1970A>C, NR_165299.1:n.4963T>G, NM_001377470.1:c.*2692T>G, NM_001377459.1:c.*2697T>G, NM_001377458.1:c.*2692T>G, NM_001377468.1:c.*2697T>G, NM_001377465.1:c.*2692T>G, NM_001377466.1:c.*2692T>G, NM_001377467.1:c.*2692T>G, NM_001377460.1:c.*2697T>G, NM_001377461.1:c.*2692T>G, NM_001377463.1:c.*2692T>G, NM_001377462.1:c.*2697T>G, NM_001377464.1:c.*2692T>G, NM_001377469.1:c.*2692T>G, NM_001278203.1:c.*2692T>G, NP_037428.3:p.Asp657Ala, NP_001307968.1:p.Asp657Ala, NP_001307967.1:p.Asp657Ala, XP_011539604.1:p.Asp657Ala, XP_006710652.1:p.Asp638Ala, XP_016856586.1:p.Asp657Ala, XP_016856587.1:p.Asp657Ala, XP_047274679.1:p.Asp657Ala, XP_047274680.1:p.Asp657Ala

Select item 14852650303.

rs1485265030 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:108918663 (GRCh38)
1:109461285 (GRCh37)
Canonical SPDI:: NC_000001.11:108918662:C:T
Gene:: GPSM2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000029/4 (GnomAD)
HGVS:: NC_000001.11:g.108918663C>T, NC_000001.10:g.109461285C>T, NG_028108.2:g.48314C>T, NM_013296.5:c.1314C>T, NM_013296.4:c.1314C>T, NM_001321039.3:c.1314C>T, NM_001321039.2:c.1314C>T, NM_001321039.1:c.1314C>T, NM_001321038.2:c.1314C>T, NM_001321038.1:c.1314C>T, XM_011541302.4:c.1314C>T, XM_011541302.3:c.1314C>T, XM_011541302.2:c.1314C>T, XM_011541302.1:c.1314C>T, XM_006710589.4:c.1257C>T, XM_006710589.3:c.1257C>T, XM_006710589.2:c.1257C>T, XM_006710589.1:c.1257C>T, XM_017001097.3:c.1314C>T, XM_017001097.2:c.1314C>T, XM_017001097.1:c.1314C>T, XM_017001098.3:c.1314C>T, XM_017001098.2:c.1314C>T, XM_017001098.1:c.1314C>T, XM_047418723.1:c.1314C>T, XM_047418724.1:c.1314C>T

Select item 14847573204.

rs1484757320 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:108922544 (GRCh38)
1:109465166 (GRCh37)
Canonical SPDI:: NC_000001.11:108922543:C:T
Gene:: GPSM2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.108922544C>T, NC_000001.10:g.109465166C>T, NG_028108.2:g.52195C>T, NM_013296.5:c.1568C>T, NM_013296.4:c.1568C>T, NM_001321039.3:c.1568C>T, NM_001321039.2:c.1568C>T, NM_001321039.1:c.1568C>T, NM_001321038.2:c.1568C>T, NM_001321038.1:c.1568C>T, XM_011541302.4:c.1568C>T, XM_011541302.3:c.1568C>T, XM_011541302.2:c.1568C>T, XM_011541302.1:c.1568C>T, XM_006710589.4:c.1511C>T, XM_006710589.3:c.1511C>T, XM_006710589.2:c.1511C>T, XM_006710589.1:c.1511C>T, XM_017001097.3:c.1568C>T, XM_017001097.2:c.1568C>T, XM_017001097.1:c.1568C>T, XM_017001098.3:c.1568C>T, XM_017001098.2:c.1568C>T, XM_017001098.1:c.1568C>T, XM_047418723.1:c.1568C>T, XM_047418724.1:c.1568C>T, NP_037428.3:p.Thr523Ile, NP_001307968.1:p.Thr523Ile, NP_001307967.1:p.Thr523Ile, XP_011539604.1:p.Thr523Ile, XP_006710652.1:p.Thr504Ile, XP_016856586.1:p.Thr523Ile, XP_016856587.1:p.Thr523Ile, XP_047274679.1:p.Thr523Ile, XP_047274680.1:p.Thr523Ile

Select item 14796564115.

rs1479656411 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:108898016 (GRCh38)
1:109440638 (GRCh37)
Canonical SPDI:: NC_000001.11:108898015:A:G
Gene:: GPSM2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.108898016A>G, NC_000001.10:g.109440638A>G, NG_028108.2:g.27667A>G, NM_013296.5:c.472A>G, NM_013296.4:c.472A>G, NM_001321039.3:c.472A>G, NM_001321039.2:c.472A>G, NM_001321039.1:c.472A>G, NM_001321038.2:c.472A>G, NM_001321038.1:c.472A>G, XM_011541302.4:c.472A>G, XM_011541302.3:c.472A>G, XM_011541302.2:c.472A>G, XM_011541302.1:c.472A>G, XM_006710589.4:c.415A>G, XM_006710589.3:c.415A>G, XM_006710589.2:c.415A>G, XM_006710589.1:c.415A>G, XM_011541303.4:c.472A>G, XM_011541303.3:c.472A>G, XM_011541303.2:c.472A>G, XM_011541303.1:c.472A>G, XM_017001097.3:c.472A>G, XM_017001097.2:c.472A>G, XM_017001097.1:c.472A>G, XM_017001098.3:c.472A>G, XM_017001098.2:c.472A>G, XM_017001098.1:c.472A>G, XM_047418723.1:c.472A>G, XM_047418724.1:c.472A>G, NP_037428.3:p.Ser158Gly, NP_001307968.1:p.Ser158Gly, NP_001307967.1:p.Ser158Gly, XP_011539604.1:p.Ser158Gly, XP_006710652.1:p.Ser139Gly, XP_011539605.1:p.Ser158Gly, XP_016856586.1:p.Ser158Gly, XP_016856587.1:p.Ser158Gly, XP_047274679.1:p.Ser158Gly, XP_047274680.1:p.Ser158Gly

Select item 14788941116.

rs1478894111 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:108896956 (GRCh38)
1:109439578 (GRCh37)
Canonical SPDI:: NC_000001.11:108896955:C:T
Gene:: GPSM2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.108896956C>T, NC_000001.10:g.109439578C>T, NG_028108.2:g.26607C>T, NM_013296.5:c.149C>T, NM_013296.4:c.149C>T, NM_001321039.3:c.149C>T, NM_001321039.2:c.149C>T, NM_001321039.1:c.149C>T, NM_001321038.2:c.149C>T, NM_001321038.1:c.149C>T, XM_011541302.4:c.149C>T, XM_011541302.3:c.149C>T, XM_011541302.2:c.149C>T, XM_011541302.1:c.149C>T, XM_006710589.4:c.92C>T, XM_006710589.3:c.92C>T, XM_006710589.2:c.92C>T, XM_006710589.1:c.92C>T, XM_011541303.4:c.149C>T, XM_011541303.3:c.149C>T, XM_011541303.2:c.149C>T, XM_011541303.1:c.149C>T, XM_017001097.3:c.149C>T, XM_017001097.2:c.149C>T, XM_017001097.1:c.149C>T, XM_017001098.3:c.149C>T, XM_017001098.2:c.149C>T, XM_017001098.1:c.149C>T, XM_047418723.1:c.149C>T, XM_047418724.1:c.149C>T, NP_037428.3:p.Ala50Val, NP_001307968.1:p.Ala50Val, NP_001307967.1:p.Ala50Val, XP_011539604.1:p.Ala50Val, XP_006710652.1:p.Ala31Val, XP_011539605.1:p.Ala50Val, XP_016856586.1:p.Ala50Val, XP_016856587.1:p.Ala50Val, XP_047274679.1:p.Ala50Val, XP_047274680.1:p.Ala50Val

Select item 14780088807.

rs1478008880 [Homo sapiens]

Variant type:: INS
Alleles:: ->ACAG [Show Flanks]
Chromosome:: 1:108897041 (GRCh38)
1:109439664 (GRCh37)
Canonical SPDI:: NC_000001.11:108897041::ACAG
Gene:: GPSM2 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
HGVS:: NC_000001.11:g.108897041_108897042insACAG, NC_000001.10:g.109439663_109439664insACAG, NG_028108.2:g.26692_26693insACAG, NM_013296.5:c.234_235insACAG, NM_013296.4:c.234_235insACAG, NM_001321039.3:c.234_235insACAG, NM_001321039.2:c.234_235insACAG, NM_001321039.1:c.234_235insACAG, NM_001321038.2:c.234_235insACAG, NM_001321038.1:c.234_235insACAG, XM_011541302.4:c.234_235insACAG, XM_011541302.3:c.234_235insACAG, XM_011541302.2:c.234_235insACAG, XM_011541302.1:c.234_235insACAG, XM_006710589.4:c.177_178insACAG, XM_006710589.3:c.177_178insACAG, XM_006710589.2:c.177_178insACAG, XM_006710589.1:c.177_178insACAG, XM_011541303.4:c.234_235insACAG, XM_011541303.3:c.234_235insACAG, XM_011541303.2:c.234_235insACAG, XM_011541303.1:c.234_235insACAG, XM_017001097.3:c.234_235insACAG, XM_017001097.2:c.234_235insACAG, XM_017001097.1:c.234_235insACAG, XM_017001098.3:c.234_235insACAG, XM_017001098.2:c.234_235insACAG, XM_017001098.1:c.234_235insACAG, XM_047418723.1:c.234_235insACAG, XM_047418724.1:c.234_235insACAG, NP_037428.3:p.Ala79fs, NP_001307968.1:p.Ala79fs, NP_001307967.1:p.Ala79fs, XP_011539604.1:p.Ala79fs, XP_006710652.1:p.Ala60fs, XP_011539605.1:p.Ala79fs, XP_016856586.1:p.Ala79fs, XP_016856587.1:p.Ala79fs, XP_047274679.1:p.Ala79fs, XP_047274680.1:p.Ala79fs

Select item 14720822018.

rs1472082201 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:108901905 (GRCh38)
1:109444527 (GRCh37)
Canonical SPDI:: NC_000001.11:108901904:C:T
Gene:: GPSM2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.108901905C>T, NC_000001.10:g.109444527C>T, NG_028108.2:g.31556C>T, NM_013296.5:c.913C>T, NM_013296.4:c.913C>T, NM_001321039.3:c.913C>T, NM_001321039.2:c.913C>T, NM_001321039.1:c.913C>T, NM_001321038.2:c.913C>T, NM_001321038.1:c.913C>T, XM_011541302.4:c.913C>T, XM_011541302.3:c.913C>T, XM_011541302.2:c.913C>T, XM_011541302.1:c.913C>T, XM_006710589.4:c.856C>T, XM_006710589.3:c.856C>T, XM_006710589.2:c.856C>T, XM_006710589.1:c.856C>T, XM_011541303.4:c.913C>T, XM_011541303.3:c.913C>T, XM_011541303.2:c.913C>T, XM_011541303.1:c.913C>T, XM_017001097.3:c.913C>T, XM_017001097.2:c.913C>T, XM_017001097.1:c.913C>T, XM_017001098.3:c.913C>T, XM_017001098.2:c.913C>T, XM_017001098.1:c.913C>T, XM_047418723.1:c.913C>T, XM_047418724.1:c.913C>T, NP_037428.3:p.His305Tyr, NP_001307968.1:p.His305Tyr, NP_001307967.1:p.His305Tyr, XP_011539604.1:p.His305Tyr, XP_006710652.1:p.His286Tyr, XP_011539605.1:p.His305Tyr, XP_016856586.1:p.His305Tyr, XP_016856587.1:p.His305Tyr, XP_047274679.1:p.His305Tyr, XP_047274680.1:p.His305Tyr

Select item 14703586629.

rs1470358662 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:108898684 (GRCh38)
1:109441306 (GRCh37)
Canonical SPDI:: NC_000001.11:108898683:A:T
Gene:: GPSM2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.108898684A>T, NC_000001.10:g.109441306A>T, NG_028108.2:g.28335A>T, NM_013296.5:c.600A>T, NM_013296.4:c.600A>T, NM_001321039.3:c.600A>T, NM_001321039.2:c.600A>T, NM_001321039.1:c.600A>T, NM_001321038.2:c.600A>T, NM_001321038.1:c.600A>T, XM_011541302.4:c.600A>T, XM_011541302.3:c.600A>T, XM_011541302.2:c.600A>T, XM_011541302.1:c.600A>T, XM_006710589.4:c.543A>T, XM_006710589.3:c.543A>T, XM_006710589.2:c.543A>T, XM_006710589.1:c.543A>T, XM_011541303.4:c.600A>T, XM_011541303.3:c.600A>T, XM_011541303.2:c.600A>T, XM_011541303.1:c.600A>T, XM_017001097.3:c.600A>T, XM_017001097.2:c.600A>T, XM_017001097.1:c.600A>T, XM_017001098.3:c.600A>T, XM_017001098.2:c.600A>T, XM_017001098.1:c.600A>T, XM_047418723.1:c.600A>T, XM_047418724.1:c.600A>T

Select item 147033695410.

rs1470336954 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:108918691 (GRCh38)
1:109461313 (GRCh37)
Canonical SPDI:: NC_000001.11:108918690:A:C,NC_000001.11:108918690:A:G
Gene:: GPSM2 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.00005/1 (ALFA)
HGVS:: NC_000001.11:g.108918691A>C, NC_000001.11:g.108918691A>G, NC_000001.10:g.109461313A>C, NC_000001.10:g.109461313A>G, NG_028108.2:g.48342A>C, NG_028108.2:g.48342A>G, NM_013296.5:c.1342A>C, NM_013296.5:c.1342A>G, NM_013296.4:c.1342A>C, NM_013296.4:c.1342A>G, NM_001321039.3:c.1342A>C, NM_001321039.3:c.1342A>G, NM_001321039.2:c.1342A>C, NM_001321039.2:c.1342A>G, NM_001321039.1:c.1342A>C, NM_001321039.1:c.1342A>G, NM_001321038.2:c.1342A>C, NM_001321038.2:c.1342A>G, NM_001321038.1:c.1342A>C, NM_001321038.1:c.1342A>G, XM_011541302.4:c.1342A>C, XM_011541302.4:c.1342A>G, XM_011541302.3:c.1342A>C, XM_011541302.3:c.1342A>G, XM_011541302.2:c.1342A>C, XM_011541302.2:c.1342A>G, XM_011541302.1:c.1342A>C, XM_011541302.1:c.1342A>G, XM_006710589.4:c.1285A>C, XM_006710589.4:c.1285A>G, XM_006710589.3:c.1285A>C, XM_006710589.3:c.1285A>G, XM_006710589.2:c.1285A>C, XM_006710589.2:c.1285A>G, XM_006710589.1:c.1285A>C, XM_006710589.1:c.1285A>G, XM_017001097.3:c.1342A>C, XM_017001097.3:c.1342A>G, XM_017001097.2:c.1342A>C, XM_017001097.2:c.1342A>G, XM_017001097.1:c.1342A>C, XM_017001097.1:c.1342A>G, XM_017001098.3:c.1342A>C, XM_017001098.3:c.1342A>G, XM_017001098.2:c.1342A>C, XM_017001098.2:c.1342A>G, XM_017001098.1:c.1342A>C, XM_017001098.1:c.1342A>G, XM_047418723.1:c.1342A>C, XM_047418723.1:c.1342A>G, XM_047418724.1:c.1342A>C, XM_047418724.1:c.1342A>G, NP_037428.3:p.Asn448His, NP_037428.3:p.Asn448Asp, NP_001307968.1:p.Asn448His, NP_001307968.1:p.Asn448Asp, NP_001307967.1:p.Asn448His, NP_001307967.1:p.Asn448Asp, XP_011539604.1:p.Asn448His, XP_011539604.1:p.Asn448Asp, XP_006710652.1:p.Asn429His, XP_006710652.1:p.Asn429Asp, XP_016856586.1:p.Asn448His, XP_016856586.1:p.Asn448Asp, XP_016856587.1:p.Asn448His, XP_016856587.1:p.Asn448Asp, XP_047274679.1:p.Asn448His, XP_047274679.1:p.Asn448Asp, XP_047274680.1:p.Asn448His, XP_047274680.1:p.Asn448Asp

Select item 146944021811.

rs1469440218 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:108896966 (GRCh38)
1:109439588 (GRCh37)
Canonical SPDI:: NC_000001.11:108896965:T:G
Gene:: GPSM2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.108896966T>G, NC_000001.10:g.109439588T>G, NG_028108.2:g.26617T>G, NM_013296.5:c.159T>G, NM_013296.4:c.159T>G, NM_001321039.3:c.159T>G, NM_001321039.2:c.159T>G, NM_001321039.1:c.159T>G, NM_001321038.2:c.159T>G, NM_001321038.1:c.159T>G, XM_011541302.4:c.159T>G, XM_011541302.3:c.159T>G, XM_011541302.2:c.159T>G, XM_011541302.1:c.159T>G, XM_006710589.4:c.102T>G, XM_006710589.3:c.102T>G, XM_006710589.2:c.102T>G, XM_006710589.1:c.102T>G, XM_011541303.4:c.159T>G, XM_011541303.3:c.159T>G, XM_011541303.2:c.159T>G, XM_011541303.1:c.159T>G, XM_017001097.3:c.159T>G, XM_017001097.2:c.159T>G, XM_017001097.1:c.159T>G, XM_017001098.3:c.159T>G, XM_017001098.2:c.159T>G, XM_017001098.1:c.159T>G, XM_047418723.1:c.159T>G, XM_047418724.1:c.159T>G

Select item 146844378312.

rs1468443783 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:108918674 (GRCh38)
1:109461296 (GRCh37)
Canonical SPDI:: NC_000001.11:108918673:C:T
Gene:: GPSM2 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.108918674C>T, NC_000001.10:g.109461296C>T, NG_028108.2:g.48325C>T, NM_013296.5:c.1325C>T, NM_013296.4:c.1325C>T, NM_001321039.3:c.1325C>T, NM_001321039.2:c.1325C>T, NM_001321039.1:c.1325C>T, NM_001321038.2:c.1325C>T, NM_001321038.1:c.1325C>T, XM_011541302.4:c.1325C>T, XM_011541302.3:c.1325C>T, XM_011541302.2:c.1325C>T, XM_011541302.1:c.1325C>T, XM_006710589.4:c.1268C>T, XM_006710589.3:c.1268C>T, XM_006710589.2:c.1268C>T, XM_006710589.1:c.1268C>T, XM_017001097.3:c.1325C>T, XM_017001097.2:c.1325C>T, XM_017001097.1:c.1325C>T, XM_017001098.3:c.1325C>T, XM_017001098.2:c.1325C>T, XM_017001098.1:c.1325C>T, XM_047418723.1:c.1325C>T, XM_047418724.1:c.1325C>T, NP_037428.3:p.Ala442Val, NP_001307968.1:p.Ala442Val, NP_001307967.1:p.Ala442Val, XP_011539604.1:p.Ala442Val, XP_006710652.1:p.Ala423Val, XP_016856586.1:p.Ala442Val, XP_016856587.1:p.Ala442Val, XP_047274679.1:p.Ala442Val, XP_047274680.1:p.Ala442Val

Select item 146813066513.

rs1468130665 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:108929742 (GRCh38)
1:109472364 (GRCh37)
Canonical SPDI:: NC_000001.11:108929741:T:C
Gene:: CLCC1 (Varview), GPSM2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.108929742T>C, NC_000001.10:g.109472364T>C, NG_028108.2:g.59393T>C, NM_013296.5:c.1857T>C, NM_013296.4:c.1857T>C, NM_001321039.3:c.1857T>C, NM_001321039.2:c.1857T>C, NM_001321039.1:c.1857T>C, NM_001321038.2:c.1857T>C, NM_001321038.1:c.1857T>C, NM_015127.5:c.*2805A>G, NM_015127.4:c.*2805A>G, XM_011541302.4:c.1857T>C, XM_011541302.3:c.1857T>C, XM_011541302.2:c.1857T>C, XM_011541302.1:c.1857T>C, XM_006710589.4:c.1800T>C, XM_006710589.3:c.1800T>C, XM_006710589.2:c.1800T>C, XM_006710589.1:c.1800T>C, XM_017001097.3:c.1857T>C, XM_017001097.2:c.1857T>C, XM_017001097.1:c.1857T>C, XM_017001098.3:c.1857T>C, XM_017001098.2:c.1857T>C, XM_017001098.1:c.1857T>C, NM_001048210.3:c.*2805A>G, NM_001048210.2:c.*2805A>G, NM_001278202.2:c.*2805A>G, NM_001278202.1:c.*2805A>G, XM_047418723.1:c.1857T>C, XM_047418724.1:c.1857T>C, NR_165299.1:n.5076A>G, NM_001377470.1:c.*2805A>G, NM_001377459.1:c.*2810A>G, NM_001377458.1:c.*2805A>G, NM_001377468.1:c.*2810A>G, NM_001377465.1:c.*2805A>G, NM_001377466.1:c.*2805A>G, NM_001377467.1:c.*2805A>G, NM_001377460.1:c.*2810A>G, NM_001377461.1:c.*2805A>G, NM_001377463.1:c.*2805A>G, NM_001377462.1:c.*2810A>G, NM_001377464.1:c.*2805A>G, NM_001377469.1:c.*2805A>G, NM_001278203.1:c.*2805A>G

Select item 146776841214.

rs1467768412 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 1:108901922 (GRCh38)
1:109444544 (GRCh37)
Canonical SPDI:: NC_000001.11:108901921:AA:A
Gene:: GPSM2 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
HGVS:: NC_000001.11:g.108901923del, NC_000001.10:g.109444545del, NG_028108.2:g.31574del, NM_013296.5:c.931del, NM_013296.4:c.931del, NM_001321039.3:c.931del, NM_001321039.2:c.931del, NM_001321039.1:c.931del, NM_001321038.2:c.931del, NM_001321038.1:c.931del, XM_011541302.4:c.931del, XM_011541302.3:c.931del, XM_011541302.2:c.931del, XM_011541302.1:c.931del, XM_006710589.4:c.874del, XM_006710589.3:c.874del, XM_006710589.2:c.874del, XM_006710589.1:c.874del, XM_011541303.4:c.931del, XM_011541303.3:c.931del, XM_011541303.2:c.931del, XM_011541303.1:c.931del, XM_017001097.3:c.931del, XM_017001097.2:c.931del, XM_017001097.1:c.931del, XM_017001098.3:c.931del, XM_017001098.2:c.931del, XM_017001098.1:c.931del, XM_047418723.1:c.931del, XM_047418724.1:c.931del, NP_037428.3:p.Ile311fs, NP_001307968.1:p.Ile311fs, NP_001307967.1:p.Ile311fs, XP_011539604.1:p.Ile311fs, XP_006710652.1:p.Ile292fs, XP_011539605.1:p.Ile311fs, XP_016856586.1:p.Ile311fs, XP_016856587.1:p.Ile311fs, XP_047274679.1:p.Ile311fs, XP_047274680.1:p.Ile311fs

Select item 146358777615.

rs1463587776 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 1:108918623 (GRCh38)
1:109461245 (GRCh37)
Canonical SPDI:: NC_000001.11:108918622:GG:G
Gene:: GPSM2 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.108918624del, NC_000001.10:g.109461246del, NG_028108.2:g.48275del, NM_013296.5:c.1275del, NM_013296.4:c.1275del, NM_001321039.3:c.1275del, NM_001321039.2:c.1275del, NM_001321039.1:c.1275del, NM_001321038.2:c.1275del, NM_001321038.1:c.1275del, XM_011541302.4:c.1275del, XM_011541302.3:c.1275del, XM_011541302.2:c.1275del, XM_011541302.1:c.1275del, XM_006710589.4:c.1218del, XM_006710589.3:c.1218del, XM_006710589.2:c.1218del, XM_006710589.1:c.1218del, XM_017001097.3:c.1275del, XM_017001097.2:c.1275del, XM_017001097.1:c.1275del, XM_017001098.3:c.1275del, XM_017001098.2:c.1275del, XM_017001098.1:c.1275del, XM_047418723.1:c.1275del, XM_047418724.1:c.1275del, NP_037428.3:p.Asn424_Trp425insTer, NP_001307968.1:p.Asn424_Trp425insTer, NP_001307967.1:p.Asn424_Trp425insTer, XP_011539604.1:p.Asn424_Trp425insTer, XP_006710652.1:p.Asn405_Trp406insTer, XP_016856586.1:p.Asn424_Trp425insTer, XP_016856587.1:p.Asn424_Trp425insTer, XP_047274679.1:p.Asn424_Trp425insTer, XP_047274680.1:p.Asn424_Trp425insTer

Select item 146034414316.

rs1460344143 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:108929774 (GRCh38)
1:109472396 (GRCh37)
Canonical SPDI:: NC_000001.11:108929773:A:G
Gene:: CLCC1 (Varview), GPSM2 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.108929774A>G, NC_000001.10:g.109472396A>G, NG_028108.2:g.59425A>G, NM_013296.5:c.1889A>G, NM_013296.4:c.1889A>G, NM_001321039.3:c.1889A>G, NM_001321039.2:c.1889A>G, NM_001321039.1:c.1889A>G, NM_001321038.2:c.1889A>G, NM_001321038.1:c.1889A>G, NM_015127.5:c.*2773T>C, NM_015127.4:c.*2773T>C, XM_011541302.4:c.1889A>G, XM_011541302.3:c.1889A>G, XM_011541302.2:c.1889A>G, XM_011541302.1:c.1889A>G, XM_006710589.4:c.1832A>G, XM_006710589.3:c.1832A>G, XM_006710589.2:c.1832A>G, XM_006710589.1:c.1832A>G, XM_017001097.3:c.1889A>G, XM_017001097.2:c.1889A>G, XM_017001097.1:c.1889A>G, XM_017001098.3:c.1889A>G, XM_017001098.2:c.1889A>G, XM_017001098.1:c.1889A>G, NM_001048210.3:c.*2773T>C, NM_001048210.2:c.*2773T>C, NM_001278202.2:c.*2773T>C, NM_001278202.1:c.*2773T>C, XM_047418723.1:c.1889A>G, XM_047418724.1:c.1889A>G, NR_165299.1:n.5044T>C, NM_001377470.1:c.*2773T>C, NM_001377459.1:c.*2778T>C, NM_001377458.1:c.*2773T>C, NM_001377468.1:c.*2778T>C, NM_001377465.1:c.*2773T>C, NM_001377466.1:c.*2773T>C, NM_001377467.1:c.*2773T>C, NM_001377460.1:c.*2778T>C, NM_001377461.1:c.*2773T>C, NM_001377463.1:c.*2773T>C, NM_001377462.1:c.*2778T>C, NM_001377464.1:c.*2773T>C, NM_001377469.1:c.*2773T>C, NM_001278203.1:c.*2773T>C, NP_037428.3:p.Asp630Gly, NP_001307968.1:p.Asp630Gly, NP_001307967.1:p.Asp630Gly, XP_011539604.1:p.Asp630Gly, XP_006710652.1:p.Asp611Gly, XP_016856586.1:p.Asp630Gly, XP_016856587.1:p.Asp630Gly, XP_047274679.1:p.Asp630Gly, XP_047274680.1:p.Asp630Gly

Select item 145725772517.

rs1457257725 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 1:108924164 (GRCh38)
1:109466786 (GRCh37)
Canonical SPDI:: NC_000001.11:108924163:GA:
Gene:: GPSM2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.108924164_108924165del, NC_000001.10:g.109466786_109466787del, NG_028108.2:g.53815_53816del, NM_013296.5:c.1765_1766del, NM_013296.4:c.1765_1766del, NM_001321039.3:c.1765_1766del, NM_001321039.2:c.1765_1766del, NM_001321039.1:c.1765_1766del, NM_001321038.2:c.1765_1766del, NM_001321038.1:c.1765_1766del, XM_011541302.4:c.1765_1766del, XM_011541302.3:c.1765_1766del, XM_011541302.2:c.1765_1766del, XM_011541302.1:c.1765_1766del, XM_006710589.4:c.1708_1709del, XM_006710589.3:c.1708_1709del, XM_006710589.2:c.1708_1709del, XM_006710589.1:c.1708_1709del, XM_017001097.3:c.1765_1766del, XM_017001097.2:c.1765_1766del, XM_017001097.1:c.1765_1766del, XM_017001098.3:c.1765_1766del, XM_017001098.2:c.1765_1766del, XM_017001098.1:c.1765_1766del, XM_047418723.1:c.1765_1766del, XM_047418724.1:c.1765_1766del, NP_037428.3:p.Asp589fs, NP_001307968.1:p.Asp589fs, NP_001307967.1:p.Asp589fs, XP_011539604.1:p.Asp589fs, XP_006710652.1:p.Asp570fs, XP_016856586.1:p.Asp589fs, XP_016856587.1:p.Asp589fs, XP_047274679.1:p.Asp589fs, XP_047274680.1:p.Asp589fs

Select item 145664781518.

rs1456647815 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:108929831 (GRCh38)
1:109472453 (GRCh37)
Canonical SPDI:: NC_000001.11:108929830:T:C
Gene:: CLCC1 (Varview), GPSM2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.108929831T>C, NC_000001.10:g.109472453T>C, NG_028108.2:g.59482T>C, NM_013296.5:c.1946T>C, NM_013296.4:c.1946T>C, NM_001321039.3:c.1946T>C, NM_001321039.2:c.1946T>C, NM_001321039.1:c.1946T>C, NM_001321038.2:c.1946T>C, NM_001321038.1:c.1946T>C, NM_015127.5:c.*2716A>G, NM_015127.4:c.*2716A>G, XM_011541302.4:c.1946T>C, XM_011541302.3:c.1946T>C, XM_011541302.2:c.1946T>C, XM_011541302.1:c.1946T>C, XM_006710589.4:c.1889T>C, XM_006710589.3:c.1889T>C, XM_006710589.2:c.1889T>C, XM_006710589.1:c.1889T>C, XM_017001097.3:c.1946T>C, XM_017001097.2:c.1946T>C, XM_017001097.1:c.1946T>C, XM_017001098.3:c.1946T>C, XM_017001098.2:c.1946T>C, XM_017001098.1:c.1946T>C, NM_001048210.3:c.*2716A>G, NM_001048210.2:c.*2716A>G, NM_001278202.2:c.*2716A>G, NM_001278202.1:c.*2716A>G, XM_047418723.1:c.1946T>C, XM_047418724.1:c.1946T>C, NR_165299.1:n.4987A>G, NM_001377470.1:c.*2716A>G, NM_001377459.1:c.*2721A>G, NM_001377458.1:c.*2716A>G, NM_001377468.1:c.*2721A>G, NM_001377465.1:c.*2716A>G, NM_001377466.1:c.*2716A>G, NM_001377467.1:c.*2716A>G, NM_001377460.1:c.*2721A>G, NM_001377461.1:c.*2716A>G, NM_001377463.1:c.*2716A>G, NM_001377462.1:c.*2721A>G, NM_001377464.1:c.*2716A>G, NM_001377469.1:c.*2716A>G, NM_001278203.1:c.*2716A>G, NP_037428.3:p.Leu649Pro, NP_001307968.1:p.Leu649Pro, NP_001307967.1:p.Leu649Pro, XP_011539604.1:p.Leu649Pro, XP_006710652.1:p.Leu630Pro, XP_016856586.1:p.Leu649Pro, XP_016856587.1:p.Leu649Pro, XP_047274679.1:p.Leu649Pro, XP_047274680.1:p.Leu649Pro

Select item 145662599619.

rs1456625996 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:108903190 (GRCh38)
1:109445812 (GRCh37)
Canonical SPDI:: NC_000001.11:108903189:C:G
Gene:: GPSM2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000566/9 (TOMMO)
HGVS:: NC_000001.11:g.108903190C>G, NC_000001.10:g.109445812C>G, NG_028108.2:g.32841C>G, NM_013296.5:c.1018C>G, NM_013296.4:c.1018C>G, NM_001321039.3:c.1018C>G, NM_001321039.2:c.1018C>G, NM_001321039.1:c.1018C>G, NM_001321038.2:c.1018C>G, NM_001321038.1:c.1018C>G, XM_011541302.4:c.1018C>G, XM_011541302.3:c.1018C>G, XM_011541302.2:c.1018C>G, XM_011541302.1:c.1018C>G, XM_006710589.4:c.961C>G, XM_006710589.3:c.961C>G, XM_006710589.2:c.961C>G, XM_006710589.1:c.961C>G, XM_011541303.4:c.1018C>G, XM_011541303.3:c.1018C>G, XM_011541303.2:c.1018C>G, XM_011541303.1:c.1018C>G, XM_017001097.3:c.1018C>G, XM_017001097.2:c.1018C>G, XM_017001097.1:c.1018C>G, XM_017001098.3:c.1018C>G, XM_017001098.2:c.1018C>G, XM_017001098.1:c.1018C>G, XM_047418723.1:c.1018C>G, XM_047418724.1:c.1018C>G, NP_037428.3:p.Gln340Glu, NP_001307968.1:p.Gln340Glu, NP_001307967.1:p.Gln340Glu, XP_011539604.1:p.Gln340Glu, XP_006710652.1:p.Gln321Glu, XP_011539605.1:p.Gln340Glu, XP_016856586.1:p.Gln340Glu, XP_016856587.1:p.Gln340Glu, XP_047274679.1:p.Gln340Glu, XP_047274680.1:p.Gln340Glu

Select item 145648187920.

rs1456481879 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:108922532 (GRCh38)
1:109465154 (GRCh37)
Canonical SPDI:: NC_000001.11:108922531:C:T
Gene:: GPSM2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.108922532C>T, NC_000001.10:g.109465154C>T, NG_028108.2:g.52183C>T, NM_013296.5:c.1556C>T, NM_013296.4:c.1556C>T, NM_001321039.3:c.1556C>T, NM_001321039.2:c.1556C>T, NM_001321039.1:c.1556C>T, NM_001321038.2:c.1556C>T, NM_001321038.1:c.1556C>T, XM_011541302.4:c.1556C>T, XM_011541302.3:c.1556C>T, XM_011541302.2:c.1556C>T, XM_011541302.1:c.1556C>T, XM_006710589.4:c.1499C>T, XM_006710589.3:c.1499C>T, XM_006710589.2:c.1499C>T, XM_006710589.1:c.1499C>T, XM_017001097.3:c.1556C>T, XM_017001097.2:c.1556C>T, XM_017001097.1:c.1556C>T, XM_017001098.3:c.1556C>T, XM_017001098.2:c.1556C>T, XM_017001098.1:c.1556C>T, XM_047418723.1:c.1556C>T, XM_047418724.1:c.1556C>T, NP_037428.3:p.Ala519Val, NP_001307968.1:p.Ala519Val, NP_001307967.1:p.Ala519Val, XP_011539604.1:p.Ala519Val, XP_006710652.1:p.Ala500Val, XP_016856586.1:p.Ala519Val, XP_016856587.1:p.Ala519Val, XP_047274679.1:p.Ala519Val, XP_047274680.1:p.Ala519Val

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