Canonical Allele Identifier: CA003491

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55530
• ClinVar RCV Id: RCV000048936 ; RCV000077615 ; RCV000131398 ; RCV000587684
• dbSNP Id: rs80357112
• MyVariant Identifiers: chr17:g.41203080C>T (hg19) ; chr17:g.43051063C>T (hg38)
• PubMed: PMID:14534301 ; PMID:15172985 ; PMID:15235020 ; PMID:15385441 ; PMID:17305420 ; PMID:18285836 ; PMID:18403564 ; PMID:20378548 ; PMID:20516115 ; PMID:21371001 ; PMID:21523855 ; PMID:22505045 ; PMID:22684231 ; PMID:25504618 ; PMID:25724305 ; PMID:25748678 ; PMID:26913838

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43051063C>T , CM000679.2:g.43051063C>T	GRCh38
NC_000017.10:g.41203080C>T , CM000679.1:g.41203080C>T	GRCh37
NC_000017.9:g.38456606C>T	NCBI36
NG_005905.2:g.166921G>A , LRG_292:g.166921G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5329G>A	ENSP00000417241.2:p.Asp1777Asn
ENST00000470026.6:c.5332G>A	ENSP00000419274.2:p.Asp1778Asn
ENST00000473961.6:c.5206G>A	ENSP00000420201.2:p.Asp1736Asn
ENST00000476777.6:c.5326G>A	ENSP00000417554.2:p.Asp1776Asn
ENST00000477152.6:c.5254G>A	ENSP00000419988.2:p.Asp1752Asn
ENST00000478531.6:c.2020G>A	ENSP00000420412.2:p.Asp674Asn
ENST00000489037.2:c.5254G>A	ENSP00000420781.2:p.Asp1752Asn
ENST00000493919.6:c.1882G>A	ENSP00000418819.2:p.Asp628Asn
ENST00000494123.6:c.5332G>A	ENSP00000419103.2:p.Asp1778Asn
ENST00000497488.2:c.4444G>A	ENSP00000418986.2:p.Asp1482Asn
ENST00000618469.2:c.5332G>A	ENSP00000478114.2:p.Asp1778Asn
ENST00000634433.2:c.5209G>A	ENSP00000489431.2:p.Asp1737Asn
ENST00000644379.2:c.5398G>A	ENSP00000496570.2:p.Asp1800Asn
ENST00000644555.2:c.1882G>A	ENSP00000494614.2:p.Asp628Asn
ENST00000652672.2:c.5191G>A	ENSP00000498906.2:p.Asp1731Asn
ENST00000484087.6:c.1894G>A	ENSP00000419481.2:p.Asp632Asn
ENST00000357654.9:c.5332G>A MANE Select	ENSP00000350283.3:p.Asp1778Asn
ENST00000471181.7:c.5395G>A	ENSP00000418960.2:p.Asp1799Asn
ENST00000644379.1:c.1719G>A
ENST00000352993.7:c.1906G>A	ENSP00000312236.5:p.Asp636Asn
ENST00000357654.7:c.5332G>A	ENSP00000350283.3:p.Asp1778Asn
ENST00000461221.5:c.*5115G>A	ENSP00000418548.1:n.*5115G>A
ENST00000468300.5:c.2020G>A	ENSP00000417148.1:p.Gly674Arg
ENST00000471181.6:c.5395G>A	ENSP00000418960.2:p.Asp1799Asn
ENST00000491747.6:c.2020G>A	ENSP00000420705.2:p.Asp674Asn
ENST00000493795.5:c.5191G>A	ENSP00000418775.1:p.Asp1731Asn
ENST00000586385.5:c.262G>A	ENSP00000465818.1:p.Asp88Asn
ENST00000591534.5:c.805G>A	ENSP00000467329.1:p.Asp269Asn
ENST00000591849.5:c.-98-873G>A	ENSP00000465347.1:n.-98-873G>A
NM_007294.3:c.5332G>A , LRG_292t1:c.5332G>A	NP_009225.1:p.Asp1778Asn
NM_007297.3:c.5191G>A	NP_009228.2:p.Asp1731Asn
NM_007298.3:c.2020G>A	NP_009229.2:p.Asp674Asn
NM_007299.3:c.2020G>A	NP_009230.2:p.Gly674Arg
NM_007300.3:c.5395G>A	NP_009231.2:p.Asp1799Asn
NR_027676.1:n.5468G>A
NM_007294.4:c.5332G>A MANE Select	NP_009225.1:p.Asp1778Asn
NM_007297.4:c.5191G>A	NP_009228.2:p.Asp1731Asn
NM_007299.4:c.2020G>A	NP_009230.2:p.Gly674Arg
NM_007300.4:c.5395G>A	NP_009231.2:p.Asp1799Asn
NR_027676.2:n.5509G>A