SNP Links for Protein (Select 223005950) - SNP

Select item 14901204521.

rs1490120452 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:40583399 (GRCh38)
19:41089305 (GRCh37)
Canonical SPDI:: NC_000019.10:40583398:T:A
Gene:: SHKBP1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.40583399T>A, NC_000019.9:g.41089305T>A, NM_138392.4:c.962T>A, NM_138392.3:c.962T>A, XM_006723474.3:c.962T>A, XM_006723474.2:c.962T>A, XM_006723474.1:c.962T>A, XM_006723475.3:c.962T>A, XM_006723475.2:c.962T>A, XM_006723475.1:c.962T>A, XM_017027473.3:c.962T>A, XM_017027473.2:c.962T>A, XM_017027473.1:c.962T>A, XM_011527493.3:c.473T>A, XM_011527493.2:c.473T>A, XM_011527493.1:c.473T>A, NP_612401.2:p.Val321Asp, XP_006723537.1:p.Val321Asp, XP_006723538.1:p.Val321Asp, XP_016882962.1:p.Val321Asp, XP_011525795.1:p.Val158Asp

Select item 14888686752.

rs1488868675 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:40577565 (GRCh38)
19:41083471 (GRCh37)
Canonical SPDI:: NC_000019.10:40577564:C:T
Gene:: SHKBP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000008/2 (GnomAD_exomes)
T=0.00006/1 (TOMMO)
HGVS:: NC_000019.10:g.40577565C>T, NC_000019.9:g.41083471C>T, NG_029905.2:g.115566C>T, NG_029905.1:g.115346C>T, NM_138392.4:c.195C>T, NM_138392.3:c.195C>T, XM_006723474.3:c.195C>T, XM_006723474.2:c.195C>T, XM_006723474.1:c.195C>T, XM_006723475.3:c.195C>T, XM_006723475.2:c.195C>T, XM_006723475.1:c.195C>T, XM_017027473.3:c.195C>T, XM_017027473.2:c.195C>T, XM_017027473.1:c.195C>T, XM_011527492.3:c.195C>T, XM_011527492.2:c.195C>T, XM_011527492.1:c.195C>T, XM_047439684.1:c.195C>T

Select item 14885799813.

rs1488579981 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:40580767 (GRCh38)
19:41086673 (GRCh37)
Canonical SPDI:: NC_000019.10:40580766:G:A
Gene:: SHKBP1 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.40580767G>A, NC_000019.9:g.41086673G>A, NM_138392.4:c.675G>A, NM_138392.3:c.675G>A, XM_006723474.3:c.675G>A, XM_006723474.2:c.675G>A, XM_006723474.1:c.675G>A, XM_006723475.3:c.675G>A, XM_006723475.2:c.675G>A, XM_006723475.1:c.675G>A, XM_017027473.3:c.675G>A, XM_017027473.2:c.675G>A, XM_017027473.1:c.675G>A, XM_011527493.3:c.186G>A, XM_011527493.2:c.186G>A, XM_011527493.1:c.186G>A, XM_011527492.3:c.675G>A, XM_011527492.2:c.675G>A, XM_011527492.1:c.675G>A, XM_047439684.1:c.675G>A, NP_612401.2:p.Trp225Ter, XP_006723537.1:p.Trp225Ter, XP_006723538.1:p.Trp225Ter, XP_016882962.1:p.Trp225Ter, XP_011525795.1:p.Trp62Ter, XP_011525794.1:p.Trp225Ter, XP_047295640.1:p.Trp225Ter

Select item 14871795094.

rs1487179509 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:40580605 (GRCh38)
19:41086511 (GRCh37)
Canonical SPDI:: NC_000019.10:40580604:G:C
Gene:: SHKBP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.40580605G>C, NC_000019.9:g.41086511G>C, NM_138392.4:c.602G>C, NM_138392.3:c.602G>C, XM_006723474.3:c.602G>C, XM_006723474.2:c.602G>C, XM_006723474.1:c.602G>C, XM_006723475.3:c.602G>C, XM_006723475.2:c.602G>C, XM_006723475.1:c.602G>C, XM_017027473.3:c.602G>C, XM_017027473.2:c.602G>C, XM_017027473.1:c.602G>C, XM_011527493.3:c.113G>C, XM_011527493.2:c.113G>C, XM_011527493.1:c.113G>C, XM_011527492.3:c.602G>C, XM_011527492.2:c.602G>C, XM_011527492.1:c.602G>C, XM_047439684.1:c.602G>C, NP_612401.2:p.Gly201Ala, XP_006723537.1:p.Gly201Ala, XP_006723538.1:p.Gly201Ala, XP_016882962.1:p.Gly201Ala, XP_011525795.1:p.Gly38Ala, XP_011525794.1:p.Gly201Ala, XP_047295640.1:p.Gly201Ala

Select item 14869781255.

rs1486978125 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:40583705 (GRCh38)
19:41089611 (GRCh37)
Canonical SPDI:: NC_000019.10:40583704:A:G
Gene:: SHKBP1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000019.10:g.40583705A>G, NC_000019.9:g.41089611A>G, NM_138392.4:c.1153A>G, NM_138392.3:c.1153A>G, XM_006723474.3:c.1153A>G, XM_006723474.2:c.1153A>G, XM_006723474.1:c.1153A>G, XM_006723475.3:c.1153A>G, XM_006723475.2:c.1153A>G, XM_006723475.1:c.1153A>G, XM_017027473.3:c.1153A>G, XM_017027473.2:c.1153A>G, XM_017027473.1:c.1153A>G, XM_011527493.3:c.664A>G, XM_011527493.2:c.664A>G, XM_011527493.1:c.664A>G, NP_612401.2:p.Thr385Ala, XP_006723537.1:p.Thr385Ala, XP_006723538.1:p.Thr385Ala, XP_016882962.1:p.Thr385Ala, XP_011525795.1:p.Thr222Ala

Select item 14827805236.

rs1482780523 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:40591193 (GRCh38)
19:41097099 (GRCh37)
Canonical SPDI:: NC_000019.10:40591192:G:A
Gene:: LTBP4 (Varview), SHKBP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.40591193G>A, NC_000019.9:g.41097099G>A, NG_021201.1:g.3028G>A, NM_138392.4:c.2110G>A, NM_138392.3:c.2110G>A, XM_006723474.3:c.2140G>A, XM_006723474.2:c.2140G>A, XM_006723474.1:c.2140G>A, XM_006723475.3:c.2137G>A, XM_006723475.2:c.2137G>A, XM_006723475.1:c.2137G>A, XM_017027473.3:c.2107G>A, XM_017027473.2:c.2107G>A, XM_017027473.1:c.2107G>A, XM_011527493.3:c.1651G>A, XM_011527493.2:c.1651G>A, XM_011527493.1:c.1651G>A, XM_011527492.3:c.1789G>A, XM_011527492.2:c.1789G>A, XM_011527492.1:c.1789G>A, XM_047439684.1:c.1786G>A, NP_612401.2:p.Glu704Lys, XP_006723537.1:p.Glu714Lys, XP_006723538.1:p.Glu713Lys, XP_016882962.1:p.Glu703Lys, XP_011525795.1:p.Glu551Lys, XP_011525794.1:p.Glu597Lys, XP_047295640.1:p.Glu596Lys

Select item 14796207397.

rs1479620739 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:40577619 (GRCh38)
19:41083525 (GRCh37)
Canonical SPDI:: NC_000019.10:40577618:G:A,NC_000019.10:40577618:G:T
Gene:: SHKBP1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.40577619G>A, NC_000019.10:g.40577619G>T, NC_000019.9:g.41083525G>A, NC_000019.9:g.41083525G>T, NG_029905.2:g.115620G>A, NG_029905.2:g.115620G>T, NG_029905.1:g.115400G>A, NG_029905.1:g.115400G>T, NM_138392.4:c.249G>A, NM_138392.4:c.249G>T, NM_138392.3:c.249G>A, NM_138392.3:c.249G>T, XM_006723474.3:c.249G>A, XM_006723474.3:c.249G>T, XM_006723474.2:c.249G>A, XM_006723474.2:c.249G>T, XM_006723474.1:c.249G>A, XM_006723474.1:c.249G>T, XM_006723475.3:c.249G>A, XM_006723475.3:c.249G>T, XM_006723475.2:c.249G>A, XM_006723475.2:c.249G>T, XM_006723475.1:c.249G>A, XM_006723475.1:c.249G>T, XM_017027473.3:c.249G>A, XM_017027473.3:c.249G>T, XM_017027473.2:c.249G>A, XM_017027473.2:c.249G>T, XM_017027473.1:c.249G>A, XM_017027473.1:c.249G>T, XM_011527493.3:c.-272G>A, XM_011527493.3:c.-272G>T, XM_011527493.2:c.-272G>A, XM_011527493.2:c.-272G>T, XM_011527493.1:c.-272G>A, XM_011527493.1:c.-272G>T, XM_011527492.3:c.249G>A, XM_011527492.3:c.249G>T, XM_011527492.2:c.249G>A, XM_011527492.2:c.249G>T, XM_011527492.1:c.249G>A, XM_011527492.1:c.249G>T, XM_047439684.1:c.249G>A, XM_047439684.1:c.249G>T, NP_612401.2:p.Glu83Asp, XP_006723537.1:p.Glu83Asp, XP_006723538.1:p.Glu83Asp, XP_016882962.1:p.Glu83Asp, XP_011525794.1:p.Glu83Asp, XP_047295640.1:p.Glu83Asp

Select item 14772335368.

rs1477233536 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:40590381 (GRCh38)
19:41096287 (GRCh37)
Canonical SPDI:: NC_000019.10:40590380:G:A
Gene:: SHKBP1 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.40590381G>A, NC_000019.9:g.41096287G>A, NG_021201.1:g.2216G>A, NM_138392.4:c.1727G>A, NM_138392.3:c.1727G>A, XM_006723474.3:c.1757G>A, XM_006723474.2:c.1757G>A, XM_006723474.1:c.1757G>A, XM_006723475.3:c.1757G>A, XM_006723475.2:c.1757G>A, XM_006723475.1:c.1757G>A, XM_017027473.3:c.1727G>A, XM_017027473.2:c.1727G>A, XM_017027473.1:c.1727G>A, XM_011527493.3:c.1268G>A, XM_011527493.2:c.1268G>A, XM_011527493.1:c.1268G>A, XM_011527492.3:c.1406G>A, XM_011527492.2:c.1406G>A, XM_011527492.1:c.1406G>A, XM_047439684.1:c.1406G>A, NP_612401.2:p.Trp576Ter, XP_006723537.1:p.Trp586Ter, XP_006723538.1:p.Trp586Ter, XP_016882962.1:p.Trp576Ter, XP_011525795.1:p.Trp423Ter, XP_011525794.1:p.Trp469Ter, XP_047295640.1:p.Trp469Ter

Select item 14722738259.

rs1472273825 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:40590824 (GRCh38)
19:41096730 (GRCh37)
Canonical SPDI:: NC_000019.10:40590823:C:T
Gene:: SHKBP1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.40590824C>T, NC_000019.9:g.41096730C>T, NG_021201.1:g.2659C>T, NM_138392.4:c.1863C>T, NM_138392.3:c.1863C>T, XM_006723474.3:c.1893C>T, XM_006723474.2:c.1893C>T, XM_006723474.1:c.1893C>T, XM_006723475.3:c.1890C>T, XM_006723475.2:c.1890C>T, XM_006723475.1:c.1890C>T, XM_017027473.3:c.1860C>T, XM_017027473.2:c.1860C>T, XM_017027473.1:c.1860C>T, XM_011527493.3:c.1404C>T, XM_011527493.2:c.1404C>T, XM_011527493.1:c.1404C>T, XM_011527492.3:c.1542C>T, XM_011527492.2:c.1542C>T, XM_011527492.1:c.1542C>T, XM_047439684.1:c.1539C>T

Select item 147174894410.

rs1471748944 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:40580634 (GRCh38)
19:41086540 (GRCh37)
Canonical SPDI:: NC_000019.10:40580633:A:G
Gene:: SHKBP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.40580634A>G, NC_000019.9:g.41086540A>G, NM_138392.4:c.631A>G, NM_138392.3:c.631A>G, XM_006723474.3:c.631A>G, XM_006723474.2:c.631A>G, XM_006723474.1:c.631A>G, XM_006723475.3:c.631A>G, XM_006723475.2:c.631A>G, XM_006723475.1:c.631A>G, XM_017027473.3:c.631A>G, XM_017027473.2:c.631A>G, XM_017027473.1:c.631A>G, XM_011527493.3:c.142A>G, XM_011527493.2:c.142A>G, XM_011527493.1:c.142A>G, XM_011527492.3:c.631A>G, XM_011527492.2:c.631A>G, XM_011527492.1:c.631A>G, XM_047439684.1:c.631A>G, NP_612401.2:p.Thr211Ala, XP_006723537.1:p.Thr211Ala, XP_006723538.1:p.Thr211Ala, XP_016882962.1:p.Thr211Ala, XP_011525795.1:p.Thr48Ala, XP_011525794.1:p.Thr211Ala, XP_047295640.1:p.Thr211Ala

Select item 147118607711.

rs1471186077 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:40578513 (GRCh38)
19:41084419 (GRCh37)
Canonical SPDI:: NC_000019.10:40578512:T:G
Gene:: SHKBP1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.40578513T>G, NC_000019.9:g.41084419T>G, NM_138392.4:c.371T>G, NM_138392.3:c.371T>G, XM_006723474.3:c.371T>G, XM_006723474.2:c.371T>G, XM_006723474.1:c.371T>G, XM_006723475.3:c.371T>G, XM_006723475.2:c.371T>G, XM_006723475.1:c.371T>G, XM_017027473.3:c.371T>G, XM_017027473.2:c.371T>G, XM_017027473.1:c.371T>G, XM_011527493.3:c.-119T>G, XM_011527493.2:c.-119T>G, XM_011527493.1:c.-119T>G, XM_011527492.3:c.371T>G, XM_011527492.2:c.371T>G, XM_011527492.1:c.371T>G, XM_047439684.1:c.371T>G, NP_612401.2:p.Val124Gly, XP_006723537.1:p.Val124Gly, XP_006723538.1:p.Val124Gly, XP_016882962.1:p.Val124Gly, XP_011525794.1:p.Val124Gly, XP_047295640.1:p.Val124Gly

Select item 147109202912.

rs1471092029 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 19:40580785 (GRCh38)
19:41086691 (GRCh37)
Canonical SPDI:: NC_000019.10:40580784:CCCCC:CCCC
Gene:: SHKBP1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.40580789del, NC_000019.9:g.41086695del, NM_138392.4:c.697del, NM_138392.3:c.697del, XM_006723474.3:c.697del, XM_006723474.2:c.697del, XM_006723474.1:c.697del, XM_006723475.3:c.697del, XM_006723475.2:c.697del, XM_006723475.1:c.697del, XM_017027473.3:c.697del, XM_017027473.2:c.697del, XM_017027473.1:c.697del, XM_011527493.3:c.208del, XM_011527493.2:c.208del, XM_011527493.1:c.208del, XM_011527492.3:c.697del, XM_011527492.2:c.697del, XM_011527492.1:c.697del, XM_047439684.1:c.697del, NP_612401.2:p.Arg233fs, XP_006723537.1:p.Arg233fs, XP_006723538.1:p.Arg233fs, XP_016882962.1:p.Arg233fs, XP_011525795.1:p.Arg70fs, XP_011525794.1:p.Arg233fs, XP_047295640.1:p.Arg233fs

Select item 147071774513.

rs1470717745 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:40583445 (GRCh38)
19:41089351 (GRCh37)
Canonical SPDI:: NC_000019.10:40583444:C:T
Gene:: SHKBP1 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.40583445C>T, NC_000019.9:g.41089351C>T, NM_138392.4:c.1008C>T, NM_138392.3:c.1008C>T, XM_006723474.3:c.1008C>T, XM_006723474.2:c.1008C>T, XM_006723474.1:c.1008C>T, XM_006723475.3:c.1008C>T, XM_006723475.2:c.1008C>T, XM_006723475.1:c.1008C>T, XM_017027473.3:c.1008C>T, XM_017027473.2:c.1008C>T, XM_017027473.1:c.1008C>T, XM_011527493.3:c.519C>T, XM_011527493.2:c.519C>T, XM_011527493.1:c.519C>T

Select item 146780402114.

rs1467804021 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:40583416 (GRCh38)
19:41089322 (GRCh37)
Canonical SPDI:: NC_000019.10:40583415:A:G
Gene:: SHKBP1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.40583416A>G, NC_000019.9:g.41089322A>G, NM_138392.4:c.979A>G, NM_138392.3:c.979A>G, XM_006723474.3:c.979A>G, XM_006723474.2:c.979A>G, XM_006723474.1:c.979A>G, XM_006723475.3:c.979A>G, XM_006723475.2:c.979A>G, XM_006723475.1:c.979A>G, XM_017027473.3:c.979A>G, XM_017027473.2:c.979A>G, XM_017027473.1:c.979A>G, XM_011527493.3:c.490A>G, XM_011527493.2:c.490A>G, XM_011527493.1:c.490A>G, NP_612401.2:p.Ile327Val, XP_006723537.1:p.Ile327Val, XP_006723538.1:p.Ile327Val, XP_016882962.1:p.Ile327Val, XP_011525795.1:p.Ile164Val

Select item 146697358815.

rs1466973588 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:40576940 (GRCh38)
19:41082846 (GRCh37)
Canonical SPDI:: NC_000019.10:40576939:G:A
Gene:: SPTBN4 (Varview), SHKBP1 (Varview)
Functional Consequence:: downstream_transcript_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,500B_downstream_variant
HGVS:: NC_000019.10:g.40576940G>A, NC_000019.9:g.41082846G>A, NG_029905.2:g.114941G>A, NG_029905.1:g.114721G>A, NM_138392.4:c.41G>A, NM_138392.3:c.41G>A, XM_006723474.3:c.41G>A, XM_006723474.2:c.41G>A, XM_006723474.1:c.41G>A, XM_006723475.3:c.41G>A, XM_006723475.2:c.41G>A, XM_006723475.1:c.41G>A, XM_017027473.3:c.41G>A, XM_017027473.2:c.41G>A, XM_017027473.1:c.41G>A, XM_011527492.3:c.41G>A, XM_011527492.2:c.41G>A, XM_011527492.1:c.41G>A, XM_047439684.1:c.41G>A, NP_612401.2:p.Arg14Gln, XP_006723537.1:p.Arg14Gln, XP_006723538.1:p.Arg14Gln, XP_016882962.1:p.Arg14Gln, XP_011525794.1:p.Arg14Gln, XP_047295640.1:p.Arg14Gln

Select item 146145113116.

rs1461451131 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:40583690 (GRCh38)
19:41089596 (GRCh37)
Canonical SPDI:: NC_000019.10:40583689:C:T
Gene:: SHKBP1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.40583690C>T, NC_000019.9:g.41089596C>T, NM_138392.4:c.1138C>T, NM_138392.3:c.1138C>T, XM_006723474.3:c.1138C>T, XM_006723474.2:c.1138C>T, XM_006723474.1:c.1138C>T, XM_006723475.3:c.1138C>T, XM_006723475.2:c.1138C>T, XM_006723475.1:c.1138C>T, XM_017027473.3:c.1138C>T, XM_017027473.2:c.1138C>T, XM_017027473.1:c.1138C>T, XM_011527493.3:c.649C>T, XM_011527493.2:c.649C>T, XM_011527493.1:c.649C>T, NP_612401.2:p.Leu380Phe, XP_006723537.1:p.Leu380Phe, XP_006723538.1:p.Leu380Phe, XP_016882962.1:p.Leu380Phe, XP_011525795.1:p.Leu217Phe

Select item 146144970717.

rs1461449707 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:40578472 (GRCh38)
19:41084378 (GRCh37)
Canonical SPDI:: NC_000019.10:40578471:G:T
Gene:: SHKBP1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.40578472G>T, NC_000019.9:g.41084378G>T, NM_138392.4:c.330G>T, NM_138392.3:c.330G>T, XM_006723474.3:c.330G>T, XM_006723474.2:c.330G>T, XM_006723474.1:c.330G>T, XM_006723475.3:c.330G>T, XM_006723475.2:c.330G>T, XM_006723475.1:c.330G>T, XM_017027473.3:c.330G>T, XM_017027473.2:c.330G>T, XM_017027473.1:c.330G>T, XM_011527493.3:c.-160G>T, XM_011527493.2:c.-160G>T, XM_011527493.1:c.-160G>T, XM_011527492.3:c.330G>T, XM_011527492.2:c.330G>T, XM_011527492.1:c.330G>T, XM_047439684.1:c.330G>T

Select item 145709292118.

rs1457092921 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:40578536 (GRCh38)
19:41084442 (GRCh37)
Canonical SPDI:: NC_000019.10:40578535:C:T
Gene:: SHKBP1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.40578536C>T, NC_000019.9:g.41084442C>T, NM_138392.4:c.394C>T, NM_138392.3:c.394C>T, XM_006723474.3:c.394C>T, XM_006723474.2:c.394C>T, XM_006723474.1:c.394C>T, XM_006723475.3:c.394C>T, XM_006723475.2:c.394C>T, XM_006723475.1:c.394C>T, XM_017027473.3:c.394C>T, XM_017027473.2:c.394C>T, XM_017027473.1:c.394C>T, XM_011527493.3:c.-96C>T, XM_011527493.2:c.-96C>T, XM_011527493.1:c.-96C>T, XM_011527492.3:c.394C>T, XM_011527492.2:c.394C>T, XM_011527492.1:c.394C>T, XM_047439684.1:c.394C>T, NP_612401.2:p.Pro132Ser, XP_006723537.1:p.Pro132Ser, XP_006723538.1:p.Pro132Ser, XP_016882962.1:p.Pro132Ser, XP_011525794.1:p.Pro132Ser, XP_047295640.1:p.Pro132Ser

Select item 145503896419.

rs1455038964 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:40583689 (GRCh38)
19:41089595 (GRCh37)
Canonical SPDI:: NC_000019.10:40583688:C:T
Gene:: SHKBP1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.40583689C>T, NC_000019.9:g.41089595C>T, NM_138392.4:c.1137C>T, NM_138392.3:c.1137C>T, XM_006723474.3:c.1137C>T, XM_006723474.2:c.1137C>T, XM_006723474.1:c.1137C>T, XM_006723475.3:c.1137C>T, XM_006723475.2:c.1137C>T, XM_006723475.1:c.1137C>T, XM_017027473.3:c.1137C>T, XM_017027473.2:c.1137C>T, XM_017027473.1:c.1137C>T, XM_011527493.3:c.648C>T, XM_011527493.2:c.648C>T, XM_011527493.1:c.648C>T

Select item 145463575620.

rs1454635756 [Homo sapiens]

Variant type:: DELINS
Alleles:: AACAC>- [Show Flanks]
Chromosome:: 19:40590995 (GRCh38)
19:41096901 (GRCh37)
Canonical SPDI:: NC_000019.10:40590993:CAACAC:C
Gene:: SHKBP1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.40590995_40590999del, NC_000019.9:g.41096901_41096905del, NG_021201.1:g.2830_2834del, NM_138392.4:c.1912_1916del, NM_138392.3:c.1912_1916del, XM_006723474.3:c.1942_1946del, XM_006723474.2:c.1942_1946del, XM_006723474.1:c.1942_1946del, XM_006723475.3:c.1939_1943del, XM_006723475.2:c.1939_1943del, XM_006723475.1:c.1939_1943del, XM_017027473.3:c.1909_1913del, XM_017027473.2:c.1909_1913del, XM_017027473.1:c.1909_1913del, XM_011527493.3:c.1453_1457del, XM_011527493.2:c.1453_1457del, XM_011527493.1:c.1453_1457del, XM_011527492.3:c.1591_1595del, XM_011527492.2:c.1591_1595del, XM_011527492.1:c.1591_1595del, XM_047439684.1:c.1588_1592del, NP_612401.2:p.Asn638fs, XP_006723537.1:p.Asn648fs, XP_006723538.1:p.Asn647fs, XP_016882962.1:p.Asn637fs, XP_011525795.1:p.Asn485fs, XP_011525794.1:p.Asn531fs, XP_047295640.1:p.Asn530fs

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Result Filters

Validation Status

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Items: 1 to 20 of 734

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