SNP Links for Protein (Select 4502421) - SNP

Links from Protein

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Select item 14887418251.

rs1488741825 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:22194579 (GRCh38)
8:22052092 (GRCh37)
Canonical SPDI:: NC_000008.11:22194578:C:T
Gene:: BMP1 (Varview)
Functional Consequence:: stop_gained,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.22194579C>T, NC_000008.10:g.22052092C>T, NG_062562.2:g.304C>T, NG_062562.1:g.304C>T, NG_029659.1:g.34440C>T, NM_006129.5:c.1432C>T, NM_006129.4:c.1432C>T, NM_001199.4:c.1432C>T, NM_001199.3:c.1432C>T, NR_033403.2:n.1503C>T, NR_033403.1:n.1735C>T, NR_033404.2:n.1503C>T, NR_033404.1:n.1735C>T, NM_006128.2:c.1432C>T, NM_006128.1:c.1432C>T, NM_006131.1:c.1432C>T, NM_006132.1:c.*790C>T, NM_006130.1:c.1432C>T, NP_006120.1:p.Gln478Ter, NP_001190.1:p.Gln478Ter

Select item 14871074592.

rs1487107459 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:22194883 (GRCh38)
8:22052396 (GRCh37)
Canonical SPDI:: NC_000008.11:22194882:A:G
Gene:: BMP1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000045/12 (TOPMED)
HGVS:: NC_000008.11:g.22194883A>G, NC_000008.10:g.22052396A>G, NG_062562.2:g.608A>G, NG_029659.1:g.34744A>G, NM_006129.5:c.1603A>G, NM_006129.4:c.1603A>G, NM_001199.4:c.1603A>G, NM_001199.3:c.1603A>G, NR_033403.2:n.1674A>G, NR_033403.1:n.1906A>G, NR_033404.2:n.1674A>G, NR_033404.1:n.1906A>G, NM_006128.2:c.1603A>G, NM_006128.1:c.1603A>G, NM_006131.1:c.1603A>G, NM_006132.1:c.*961A>G, NM_006130.1:c.1603A>G, NP_006120.1:p.Ile535Val, NP_001190.1:p.Ile535Val

Select item 14848262403.

rs1484826240 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:22197338 (GRCh38)
8:22054851 (GRCh37)
Canonical SPDI:: NC_000008.11:22197337:C:T
Gene:: BMP1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000008.11:g.22197338C>T, NC_000008.10:g.22054851C>T, NG_029659.1:g.37199C>T, NM_006129.5:c.2025C>T, NM_006129.4:c.2025C>T, NM_001199.4:c.2025C>T, NM_001199.3:c.2025C>T, NR_033403.2:n.2096C>T, NR_033403.1:n.2328C>T, NR_033404.2:n.2096C>T, NR_033404.1:n.2328C>T, NM_006128.2:c.2025C>T, NM_006128.1:c.2025C>T, NM_006131.1:c.*655C>T, NM_006132.1:c.*1383C>T, NM_006130.1:c.2025C>T

Select item 14830667454.

rs1483066745 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 8:22194460 (GRCh38)
8:22051973 (GRCh37)
Canonical SPDI:: NC_000008.11:22194459:A:G,NC_000008.11:22194459:A:T
Gene:: BMP1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000008.11:g.22194460A>G, NC_000008.11:g.22194460A>T, NC_000008.10:g.22051973A>G, NC_000008.10:g.22051973A>T, NG_062562.2:g.185A>G, NG_062562.2:g.185A>T, NG_062562.1:g.185A>G, NG_062562.1:g.185A>T, NG_029659.1:g.34321A>G, NG_029659.1:g.34321A>T, NM_006129.5:c.1313A>G, NM_006129.5:c.1313A>T, NM_006129.4:c.1313A>G, NM_006129.4:c.1313A>T, NM_001199.4:c.1313A>G, NM_001199.4:c.1313A>T, NM_001199.3:c.1313A>G, NM_001199.3:c.1313A>T, NR_033403.2:n.1384A>G, NR_033403.2:n.1384A>T, NR_033403.1:n.1616A>G, NR_033403.1:n.1616A>T, NR_033404.2:n.1384A>G, NR_033404.2:n.1384A>T, NR_033404.1:n.1616A>G, NR_033404.1:n.1616A>T, NM_006128.2:c.1313A>G, NM_006128.2:c.1313A>T, NM_006128.1:c.1313A>G, NM_006128.1:c.1313A>T, NM_006131.1:c.1313A>G, NM_006131.1:c.1313A>T, NM_006132.1:c.*671A>G, NM_006132.1:c.*671A>T, NM_006130.1:c.1313A>G, NM_006130.1:c.1313A>T, NP_006120.1:p.Asp438Gly, NP_006120.1:p.Asp438Val, NP_001190.1:p.Asp438Gly, NP_001190.1:p.Asp438Val

Select item 14826821795.

rs1482682179 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:22180482 (GRCh38)
8:22037995 (GRCh37)
Canonical SPDI:: NC_000008.11:22180481:A:C
Gene:: BMP1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.22180482A>C, NC_000008.10:g.22037995A>C, NG_029659.1:g.20343A>C, NM_006129.5:c.1076A>C, NM_006129.4:c.1076A>C, NM_001199.4:c.1076A>C, NM_001199.3:c.1076A>C, NR_033403.2:n.1147A>C, NR_033403.1:n.1379A>C, NR_033404.2:n.1147A>C, NR_033404.1:n.1379A>C, NM_006128.2:c.1076A>C, NM_006128.1:c.1076A>C, NM_006131.1:c.1076A>C, NM_006132.1:c.*333A>C, NM_006130.1:c.1076A>C, NP_006120.1:p.Lys359Thr, NP_001190.1:p.Lys359Thr

Select item 14819884966.

rs1481988496 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 8:22176585 (GRCh38)
8:22034098 (GRCh37)
Canonical SPDI:: NC_000008.11:22176584:C:G,NC_000008.11:22176584:C:T
Gene:: BMP1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.22176585C>G, NC_000008.11:g.22176585C>T, NC_000008.10:g.22034098C>G, NC_000008.10:g.22034098C>T, NG_029659.1:g.16446C>G, NG_029659.1:g.16446C>T, NM_006129.5:c.486C>G, NM_006129.5:c.486C>T, NM_006129.4:c.486C>G, NM_006129.4:c.486C>T, NM_001199.4:c.486C>G, NM_001199.4:c.486C>T, NM_001199.3:c.486C>G, NM_001199.3:c.486C>T, NR_033403.2:n.520C>G, NR_033403.2:n.520C>T, NR_033403.1:n.752C>G, NR_033403.1:n.752C>T, NR_033404.2:n.520C>G, NR_033404.2:n.520C>T, NR_033404.1:n.752C>G, NR_033404.1:n.752C>T, NM_006128.2:c.486C>G, NM_006128.2:c.486C>T, NM_006128.1:c.486C>G, NM_006128.1:c.486C>T, NM_006131.1:c.486C>G, NM_006131.1:c.486C>T, NM_006132.1:c.486C>G, NM_006132.1:c.486C>T, NM_006130.1:c.486C>G, NM_006130.1:c.486C>T

Select item 14766089677.

rs1476608967 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 8:22194815 (GRCh38)
8:22052328 (GRCh37)
Canonical SPDI:: NC_000008.11:22194814:A:C,NC_000008.11:22194814:A:G
Gene:: BMP1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.22194815A>C, NC_000008.11:g.22194815A>G, NC_000008.10:g.22052328A>C, NC_000008.10:g.22052328A>G, NG_062562.2:g.540A>C, NG_062562.2:g.540A>G, NG_029659.1:g.34676A>C, NG_029659.1:g.34676A>G, NM_006129.5:c.1535A>C, NM_006129.5:c.1535A>G, NM_006129.4:c.1535A>C, NM_006129.4:c.1535A>G, NM_001199.4:c.1535A>C, NM_001199.4:c.1535A>G, NM_001199.3:c.1535A>C, NM_001199.3:c.1535A>G, NR_033403.2:n.1606A>C, NR_033403.2:n.1606A>G, NR_033403.1:n.1838A>C, NR_033403.1:n.1838A>G, NR_033404.2:n.1606A>C, NR_033404.2:n.1606A>G, NR_033404.1:n.1838A>C, NR_033404.1:n.1838A>G, NM_006128.2:c.1535A>C, NM_006128.2:c.1535A>G, NM_006128.1:c.1535A>C, NM_006128.1:c.1535A>G, NM_006131.1:c.1535A>C, NM_006131.1:c.1535A>G, NM_006132.1:c.*893A>C, NM_006132.1:c.*893A>G, NM_006130.1:c.1535A>C, NM_006130.1:c.1535A>G, NP_006120.1:p.Tyr512Ser, NP_006120.1:p.Tyr512Cys, NP_001190.1:p.Tyr512Ser, NP_001190.1:p.Tyr512Cys

Select item 14763470428.

rs1476347042 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:22179826 (GRCh38)
8:22037339 (GRCh37)
Canonical SPDI:: NC_000008.11:22179825:C:G
Gene:: BMP1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_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_000008.11:g.22179826C>G, NC_000008.10:g.22037339C>G, NG_029659.1:g.19687C>G, NM_006129.5:c.958C>G, NM_006129.4:c.958C>G, NM_001199.4:c.958C>G, NM_001199.3:c.958C>G, NR_033403.2:n.1029C>G, NR_033403.1:n.1261C>G, NR_033404.2:n.1029C>G, NR_033404.1:n.1261C>G, NM_006128.2:c.958C>G, NM_006128.1:c.958C>G, NM_006131.1:c.958C>G, NM_006132.1:c.*215C>G, NM_006130.1:c.958C>G, NP_006120.1:p.Pro320Ala, NP_001190.1:p.Pro320Ala

Select item 14757117299.

rs1475711729 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:22176256 (GRCh38)
8:22033769 (GRCh37)
Canonical SPDI:: NC_000008.11:22176255:C:T
Gene:: BMP1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.22176256C>T, NC_000008.10:g.22033769C>T, NG_029659.1:g.16117C>T, NM_006129.5:c.376C>T, NM_006129.4:c.376C>T, NM_001199.4:c.376C>T, NM_001199.3:c.376C>T, NR_033403.2:n.410C>T, NR_033403.1:n.642C>T, NR_033404.2:n.410C>T, NR_033404.1:n.642C>T, NM_006128.2:c.376C>T, NM_006128.1:c.376C>T, NM_006131.1:c.376C>T, NM_006132.1:c.376C>T, NM_006130.1:c.376C>T, NP_006120.1:p.Pro126Ser, NP_001190.1:p.Pro126Ser

Select item 147512173410.

rs1475121734 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:22197355 (GRCh38)
8:22054868 (GRCh37)
Canonical SPDI:: NC_000008.11:22197354:T:C
Gene:: BMP1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.22197355T>C, NC_000008.10:g.22054868T>C, NG_029659.1:g.37216T>C, NM_006129.5:c.2042T>C, NM_006129.4:c.2042T>C, NM_001199.4:c.2042T>C, NM_001199.3:c.2042T>C, NR_033403.2:n.2113T>C, NR_033403.1:n.2345T>C, NR_033404.2:n.2113T>C, NR_033404.1:n.2345T>C, NM_006128.2:c.2042T>C, NM_006128.1:c.2042T>C, NM_006131.1:c.*672T>C, NM_006132.1:c.*1400T>C, NM_006130.1:c.2042T>C, NP_006120.1:p.Met681Thr, NP_001190.1:p.Met681Thr

Select item 147358170811.

rs1473581708 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 8:22194755 (GRCh38)
8:22052268 (GRCh37)
Canonical SPDI:: NC_000008.11:22194754:A:C,NC_000008.11:22194754:A:G,NC_000008.11:22194754:A:T
Gene:: BMP1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.22194755A>C, NC_000008.11:g.22194755A>G, NC_000008.11:g.22194755A>T, NC_000008.10:g.22052268A>C, NC_000008.10:g.22052268A>G, NC_000008.10:g.22052268A>T, NG_062562.2:g.480A>C, NG_062562.2:g.480A>G, NG_062562.2:g.480A>T, NG_062562.1:g.480A>C, NG_062562.1:g.480A>G, NG_062562.1:g.480A>T, NG_029659.1:g.34616A>C, NG_029659.1:g.34616A>G, NG_029659.1:g.34616A>T, NM_006129.5:c.1475A>C, NM_006129.5:c.1475A>G, NM_006129.5:c.1475A>T, NM_006129.4:c.1475A>C, NM_006129.4:c.1475A>G, NM_006129.4:c.1475A>T, NM_001199.4:c.1475A>C, NM_001199.4:c.1475A>G, NM_001199.4:c.1475A>T, NM_001199.3:c.1475A>C, NM_001199.3:c.1475A>G, NM_001199.3:c.1475A>T, NR_033403.2:n.1546A>C, NR_033403.2:n.1546A>G, NR_033403.2:n.1546A>T, NR_033403.1:n.1778A>C, NR_033403.1:n.1778A>G, NR_033403.1:n.1778A>T, NR_033404.2:n.1546A>C, NR_033404.2:n.1546A>G, NR_033404.2:n.1546A>T, NR_033404.1:n.1778A>C, NR_033404.1:n.1778A>G, NR_033404.1:n.1778A>T, NM_006128.2:c.1475A>C, NM_006128.2:c.1475A>G, NM_006128.2:c.1475A>T, NM_006128.1:c.1475A>C, NM_006128.1:c.1475A>G, NM_006128.1:c.1475A>T, NM_006131.1:c.1475A>C, NM_006131.1:c.1475A>G, NM_006131.1:c.1475A>T, NM_006132.1:c.*833A>C, NM_006132.1:c.*833A>G, NM_006132.1:c.*833A>T, NM_006130.1:c.1475A>C, NM_006130.1:c.1475A>G, NM_006130.1:c.1475A>T, NP_006120.1:p.Tyr492Ser, NP_006120.1:p.Tyr492Cys, NP_006120.1:p.Tyr492Phe, NP_001190.1:p.Tyr492Ser, NP_001190.1:p.Tyr492Cys, NP_001190.1:p.Tyr492Phe

Select item 147034563312.

rs1470345633 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:22176167 (GRCh38)
8:22033680 (GRCh37)
Canonical SPDI:: NC_000008.11:22176166:G:A,NC_000008.11:22176166:G:C
Gene:: BMP1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.22176167G>A, NC_000008.11:g.22176167G>C, NC_000008.10:g.22033680G>A, NC_000008.10:g.22033680G>C, NG_029659.1:g.16028G>A, NG_029659.1:g.16028G>C, NM_006129.5:c.287G>A, NM_006129.5:c.287G>C, NM_006129.4:c.287G>A, NM_006129.4:c.287G>C, NM_001199.4:c.287G>A, NM_001199.4:c.287G>C, NM_001199.3:c.287G>A, NM_001199.3:c.287G>C, NR_033403.2:n.321G>A, NR_033403.2:n.321G>C, NR_033403.1:n.553G>A, NR_033403.1:n.553G>C, NR_033404.2:n.321G>A, NR_033404.2:n.321G>C, NR_033404.1:n.553G>A, NR_033404.1:n.553G>C, NM_006128.2:c.287G>A, NM_006128.2:c.287G>C, NM_006128.1:c.287G>A, NM_006128.1:c.287G>C, NM_006131.1:c.287G>A, NM_006131.1:c.287G>C, NM_006132.1:c.287G>A, NM_006132.1:c.287G>C, NM_006130.1:c.287G>A, NM_006130.1:c.287G>C, NP_006120.1:p.Ser96Asn, NP_006120.1:p.Ser96Thr, NP_001190.1:p.Ser96Asn, NP_001190.1:p.Ser96Thr

Select item 146992603813.

rs1469926038 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:22176213 (GRCh38)
8:22033726 (GRCh37)
Canonical SPDI:: NC_000008.11:22176212:A:G
Gene:: BMP1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.22176213A>G, NC_000008.10:g.22033726A>G, NG_029659.1:g.16074A>G, NM_006129.5:c.333A>G, NM_006129.4:c.333A>G, NM_001199.4:c.333A>G, NM_001199.3:c.333A>G, NR_033403.2:n.367A>G, NR_033403.1:n.599A>G, NR_033404.2:n.367A>G, NR_033404.1:n.599A>G, NM_006128.2:c.333A>G, NM_006128.1:c.333A>G, NM_006131.1:c.333A>G, NM_006132.1:c.333A>G, NM_006130.1:c.333A>G

Select item 146719585414.

rs1467195854 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:22177067 (GRCh38)
8:22034580 (GRCh37)
Canonical SPDI:: NC_000008.11:22177066:G:C
Gene:: BMP1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.22177067G>C, NC_000008.10:g.22034580G>C, NG_029659.1:g.16928G>C, NM_006129.5:c.658G>C, NM_006129.4:c.658G>C, NM_001199.4:c.658G>C, NM_001199.3:c.658G>C, NR_033403.2:n.729G>C, NR_033403.1:n.961G>C, NR_033404.2:n.729G>C, NR_033404.1:n.961G>C, NM_006128.2:c.658G>C, NM_006128.1:c.658G>C, NM_006131.1:c.658G>C, NM_006132.1:c.658G>C, NM_006130.1:c.658G>C, NP_006120.1:p.Gly220Arg, NP_001190.1:p.Gly220Arg

Select item 146639923315.

rs1466399233 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:22173699 (GRCh38)
8:22031212 (GRCh37)
Canonical SPDI:: NC_000008.11:22173698:C:T
Gene:: BMP1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.22173699C>T, NC_000008.10:g.22031212C>T, NG_029659.1:g.13560C>T, NM_006129.5:c.246C>T, NM_006129.4:c.246C>T, NM_001199.4:c.246C>T, NM_001199.3:c.246C>T, NR_033403.2:n.280C>T, NR_033403.1:n.512C>T, NR_033404.2:n.280C>T, NR_033404.1:n.512C>T, NM_006128.2:c.246C>T, NM_006128.1:c.246C>T, NM_006131.1:c.246C>T, NM_006132.1:c.246C>T, NM_006130.1:c.246C>T

Select item 146542355416.

rs1465423554 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:22196697 (GRCh38)
8:22054210 (GRCh37)
Canonical SPDI:: NC_000008.11:22196696:C:A
Gene:: BMP1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000094/1 (ALFA)
A=0.000012/3 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
HGVS:: NC_000008.11:g.22196697C>A, NC_000008.10:g.22054210C>A, NG_029659.1:g.36558C>A, NM_006129.5:c.1783C>A, NM_006129.4:c.1783C>A, NM_001199.4:c.1783C>A, NM_001199.3:c.1783C>A, NR_033403.2:n.1854C>A, NR_033403.1:n.2086C>A, NR_033404.2:n.1854C>A, NR_033404.1:n.2086C>A, NM_006128.2:c.1783C>A, NM_006128.1:c.1783C>A, NM_006131.1:c.*413C>A, NM_006132.1:c.*1141C>A, NM_006130.1:c.1783C>A, NP_006120.1:p.Leu595Ile, NP_001190.1:p.Leu595Ile

Select item 146504055517.

rs1465040555 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 8:22165490 (GRCh38)
8:22023003 (GRCh37)
Canonical SPDI:: NC_000008.11:22165489:A:C,NC_000008.11:22165489:A:T
Gene:: BMP1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_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_000008.11:g.22165490A>C, NC_000008.11:g.22165490A>T, NC_000008.10:g.22023003A>C, NC_000008.10:g.22023003A>T, NG_029659.1:g.5351A>C, NG_029659.1:g.5351A>T, NM_006129.5:c.85A>C, NM_006129.5:c.85A>T, NM_006129.4:c.85A>C, NM_006129.4:c.85A>T, NM_001199.4:c.85A>C, NM_001199.4:c.85A>T, NM_001199.3:c.85A>C, NM_001199.3:c.85A>T, NR_033403.2:n.119A>C, NR_033403.2:n.119A>T, NR_033403.1:n.351A>C, NR_033403.1:n.351A>T, NR_033404.2:n.119A>C, NR_033404.2:n.119A>T, NR_033404.1:n.351A>C, NR_033404.1:n.351A>T, NG_016968.1:g.8820A>C, NG_016968.1:g.8820A>T, NM_006128.2:c.85A>C, NM_006128.2:c.85A>T, NM_006128.1:c.85A>C, NM_006128.1:c.85A>T, NM_006131.1:c.85A>C, NM_006131.1:c.85A>T, NM_006132.1:c.85A>C, NM_006132.1:c.85A>T, NM_006130.1:c.85A>C, NM_006130.1:c.85A>T, NP_006120.1:p.Thr29Pro, NP_006120.1:p.Thr29Ser, NP_001190.1:p.Thr29Pro, NP_001190.1:p.Thr29Ser

Select item 146379565818.

rs1463795658 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCT>- [Show Flanks]
Chromosome:: 8:22165450 (GRCh38)
8:22022963 (GRCh37)
Canonical SPDI:: NC_000008.11:22165440:GCTGCTGCTGCT:GCTGCTGCT
Gene:: BMP1 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000008.11:g.22165441GCT[3], NC_000008.10:g.22022954GCT[3], NG_029659.1:g.5302GCT[3], NM_006129.5:c.36GCT[3], NM_006129.4:c.36GCT[3], NM_001199.4:c.36GCT[3], NM_001199.3:c.36GCT[3], NR_033403.2:n.70GCT[3], NR_033403.1:n.302GCT[3], NR_033404.2:n.70GCT[3], NR_033404.1:n.302GCT[3], NG_016968.1:g.8771GCT[3], NM_006128.2:c.36GCT[3], NM_006128.1:c.36GCT[3], NM_006131.1:c.36GCT[3], NM_006132.1:c.36GCT[3], NM_006130.1:c.36GCT[3], NP_006120.1:p.Leu16del, NP_001190.1:p.Leu16del

Select item 146091450019.

rs1460914500 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:22192107 (GRCh38)
8:22049620 (GRCh37)
Canonical SPDI:: NC_000008.11:22192106:A:C
Gene:: BMP1 (Varview), LOC124901904 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.22192107A>C, NC_000008.10:g.22049620A>C, NG_029659.1:g.31968A>C, NM_006129.5:c.1136A>C, NM_006129.4:c.1136A>C, NM_001199.4:c.1136A>C, NM_001199.3:c.1136A>C, NR_033403.2:n.1207A>C, NR_033403.1:n.1439A>C, NR_033404.2:n.1207A>C, NR_033404.1:n.1439A>C, NM_006128.2:c.1136A>C, NM_006128.1:c.1136A>C, NM_006131.1:c.1136A>C, NM_006132.1:c.*393A>C, NM_006130.1:c.1136A>C, NP_006120.1:p.Tyr379Ser, NP_001190.1:p.Tyr379Ser

Select item 145538373320.

rs1455383733 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:22165464 (GRCh38)
8:22022977 (GRCh37)
Canonical SPDI:: NC_000008.11:22165463:G:T
Gene:: BMP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000008.11:g.22165464G>T, NC_000008.10:g.22022977G>T, NG_029659.1:g.5325G>T, NM_006129.5:c.59G>T, NM_006129.4:c.59G>T, NM_001199.4:c.59G>T, NM_001199.3:c.59G>T, NR_033403.2:n.93G>T, NR_033403.1:n.325G>T, NR_033404.2:n.93G>T, NR_033404.1:n.325G>T, NG_016968.1:g.8794G>T, NM_006128.2:c.59G>T, NM_006128.1:c.59G>T, NM_006131.1:c.59G>T, NM_006132.1:c.59G>T, NM_006130.1:c.59G>T, NP_006120.1:p.Gly20Val, NP_001190.1:p.Gly20Val

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