Canonical Allele Identifier: CA003605

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 37672
• ClinVar RCV Id: RCV000031253 ; RCV000215390 ; RCV000257937 ; RCV001095362
• dbSNP Id: rs80357477
• MyVariant Identifiers: chr17:g.41199674T>C (hg19) ; chr17:g.43047657T>C (hg38)
• PubMed: PMID:15385441 ; PMID:17305420 ; PMID:20516115 ; PMID:20875879 ; PMID:21309043 ; PMID:22505045 ; PMID:25525159

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047657T>C , CM000679.2:g.43047657T>C	GRCh38
NC_000017.10:g.41199674T>C , CM000679.1:g.41199674T>C	GRCh37
NC_000017.9:g.38453200T>C	NCBI36
NG_005905.2:g.170327A>G , LRG_292:g.170327A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5450A>G	ENSP00000417241.2:p.Asp1817Gly
ENST00000470026.6:c.5453A>G	ENSP00000419274.2:p.Asp1818Gly
ENST00000473961.6:c.5327A>G	ENSP00000420201.2:p.Asp1776Gly
ENST00000476777.6:c.5447A>G	ENSP00000417554.2:p.Asp1816Gly
ENST00000477152.6:c.5375A>G	ENSP00000419988.2:p.Asp1792Gly
ENST00000478531.6:c.2141A>G	ENSP00000420412.2:p.Asp714Gly
ENST00000489037.2:c.5375A>G	ENSP00000420781.2:p.Asp1792Gly
ENST00000493919.6:c.2003A>G	ENSP00000418819.2:p.Asp668Gly
ENST00000494123.6:c.5453A>G	ENSP00000419103.2:p.Asp1818Gly
ENST00000497488.2:c.4565A>G	ENSP00000418986.2:p.Asp1522Gly
ENST00000618469.2:c.5453A>G	ENSP00000478114.2:p.Asp1818Gly
ENST00000634433.2:c.5330A>G	ENSP00000489431.2:p.Asp1777Gly
ENST00000644379.2:c.5519A>G	ENSP00000496570.2:p.Asp1840Gly
ENST00000644555.2:c.2003A>G	ENSP00000494614.2:p.Asp668Gly
ENST00000652672.2:c.5312A>G	ENSP00000498906.2:p.Asp1771Gly
ENST00000484087.6:c.2015A>G	ENSP00000419481.2:p.Asp672Gly
ENST00000700081.1:n.1336A>G
ENST00000700082.1:n.817A>G
ENST00000357654.9:c.5453A>G MANE Select	ENSP00000350283.3:p.Asp1818Gly
ENST00000471181.7:c.5516A>G	ENSP00000418960.2:p.Asp1839Gly
ENST00000644379.1:c.1840A>G
ENST00000352993.7:c.2027A>G	ENSP00000312236.5:p.Asp676Gly
ENST00000357654.7:c.5453A>G	ENSP00000350283.3:p.Asp1818Gly
ENST00000461221.5:c.*5236A>G	ENSP00000418548.1:n.*5236A>G
ENST00000468300.5:c.2067A>G	ENSP00000417148.1:p.Gly689=
ENST00000471181.6:c.5516A>G	ENSP00000418960.2:p.Asp1839Gly
ENST00000491747.6:c.2141A>G	ENSP00000420705.2:p.Asp714Gly
ENST00000493795.5:c.5312A>G	ENSP00000418775.1:p.Asp1771Gly
ENST00000586385.5:c.383A>G	ENSP00000465818.1:p.Asp128Gly
ENST00000591534.5:c.926A>G	ENSP00000467329.1:p.Asp309Gly
ENST00000591849.5:c.152A>G	ENSP00000465347.1:p.Asp51Gly
NM_007294.3:c.5453A>G , LRG_292t1:c.5453A>G	NP_009225.1:p.Asp1818Gly
NM_007297.3:c.5312A>G	NP_009228.2:p.Asp1771Gly
NM_007298.3:c.2141A>G	NP_009229.2:p.Asp714Gly
NM_007299.3:c.2067A>G	NP_009230.2:p.Gly689=
NM_007300.3:c.5516A>G	NP_009231.2:p.Asp1839Gly
NR_027676.1:n.5589A>G
NM_007294.4:c.5453A>G MANE Select	NP_009225.1:p.Asp1818Gly
NM_007297.4:c.5312A>G	NP_009228.2:p.Asp1771Gly
NM_007299.4:c.2067A>G	NP_009230.2:p.Gly689=
NM_007300.4:c.5516A>G	NP_009231.2:p.Asp1839Gly
NR_027676.2:n.5630A>G