Canonical Allele Identifier: CA10591849

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1743457
• ClinVar RCV Id: RCV002338102
• dbSNP Id: rs1799966
• MyVariant Identifiers: chr17:g.41223094T>G (hg19) ; chr17:g.43071077T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071077T>G , CM000679.2:g.43071077T>G	GRCh38
NC_000017.10:g.41223094T>G , CM000679.1:g.41223094T>G	GRCh37
NC_000017.9:g.38476620T>G	NCBI36
NG_005905.2:g.146907A>C , LRG_292:g.146907A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4834A>C	ENSP00000417241.2:p.Ser1612Arg
ENST00000470026.6:c.4837A>C	ENSP00000419274.2:p.Ser1613Arg
ENST00000473961.6:c.4711A>C	ENSP00000420201.2:p.Ser1571Arg
ENST00000476777.6:c.4831A>C	ENSP00000417554.2:p.Ser1611Arg
ENST00000477152.6:c.4759A>C	ENSP00000419988.2:p.Ser1587Arg
ENST00000478531.6:c.1525A>C	ENSP00000420412.2:p.Ser509Arg
ENST00000489037.2:c.4759A>C	ENSP00000420781.2:p.Ser1587Arg
ENST00000493919.6:c.1387A>C	ENSP00000418819.2:p.Ser463Arg
ENST00000494123.6:c.4837A>C	ENSP00000419103.2:p.Ser1613Arg
ENST00000497488.2:c.3949A>C	ENSP00000418986.2:p.Ser1317Arg
ENST00000618469.2:c.4837A>C	ENSP00000478114.2:p.Ser1613Arg
ENST00000634433.2:c.4714A>C	ENSP00000489431.2:p.Ser1572Arg
ENST00000644379.2:c.4903A>C	ENSP00000496570.2:p.Ser1635Arg
ENST00000644555.2:c.1387A>C	ENSP00000494614.2:p.Ser463Arg
ENST00000652672.2:c.4696A>C	ENSP00000498906.2:p.Ser1566Arg
ENST00000484087.6:c.1399A>C	ENSP00000419481.2:p.Ser467Arg
ENST00000700182.1:c.1444A>C	ENSP00000514849.1:p.Ser482Arg
ENST00000357654.9:c.4837A>C MANE Select	ENSP00000350283.3:p.Ser1613Arg
ENST00000471181.7:c.4900A>C	ENSP00000418960.2:p.Ser1634Arg
ENST00000644379.1:c.1224A>C
ENST00000352993.7:c.1411A>C	ENSP00000312236.5:p.Ser471Arg
ENST00000357654.7:c.4837A>C	ENSP00000350283.3:p.Ser1613Arg
ENST00000461221.5:c.*4620A>C	ENSP00000418548.1:n.*4620A>C
ENST00000468300.5:c.1525A>C	ENSP00000417148.1:p.Ser509Arg
ENST00000471181.6:c.4900A>C	ENSP00000418960.2:p.Ser1634Arg
ENST00000478531.5:c.1525A>C	ENSP00000420412.1:p.Ser509Arg
ENST00000484087.5:c.1150A>C	ENSP00000419481.1:p.Ser384Arg
ENST00000491747.6:c.1525A>C	ENSP00000420705.2:p.Ser509Arg
ENST00000493795.5:c.4696A>C	ENSP00000418775.1:p.Ser1566Arg
ENST00000493919.5:c.1387A>C	ENSP00000418819.1:p.Ser463Arg
ENST00000586385.5:c.5-7126A>C	ENSP00000465818.1:n.5-7126A>C
ENST00000591534.5:c.310A>C	ENSP00000467329.1:p.Ser104Arg
ENST00000591849.5:c.-98-20887A>C	ENSP00000465347.1:n.-98-20887A>C
NM_007294.3:c.4837A>C , LRG_292t1:c.4837A>C	NP_009225.1:p.Ser1613Arg
NM_007297.3:c.4696A>C	NP_009228.2:p.Ser1566Arg
NM_007298.3:c.1525A>C	NP_009229.2:p.Ser509Arg
NM_007299.3:c.1525A>C	NP_009230.2:p.Ser509Arg
NM_007300.3:c.4900A>C	NP_009231.2:p.Ser1634Arg
NR_027676.1:n.4973A>C
NM_007294.4:c.4837A>C MANE Select	NP_009225.1:p.Ser1613Arg
NM_007297.4:c.4696A>C	NP_009228.2:p.Ser1566Arg
NM_007299.4:c.1525A>C	NP_009230.2:p.Ser509Arg
NM_007300.4:c.4900A>C	NP_009231.2:p.Ser1634Arg
NR_027676.2:n.5014A>C