Canonical Allele Identifier: CA10590769

Gene: BRCA1

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43049180T>C , CM000679.2:g.43049180T>C	GRCh38
NC_000017.10:g.41201197T>C , CM000679.1:g.41201197T>C	GRCh37
NC_000017.9:g.38454723T>C	NCBI36
NG_005905.2:g.168804A>G , LRG_292:g.168804A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5344A>G	ENSP00000417241.2:p.Met1782Val
ENST00000470026.6:c.5347A>G	ENSP00000419274.2:p.Met1783Val
ENST00000473961.6:c.5221A>G	ENSP00000420201.2:p.Met1741Val
ENST00000476777.6:c.5341A>G	ENSP00000417554.2:p.Met1781Val
ENST00000477152.6:c.5269A>G	ENSP00000419988.2:p.Met1757Val
ENST00000478531.6:c.2035A>G	ENSP00000420412.2:p.Met679Val
ENST00000489037.2:c.5269A>G	ENSP00000420781.2:p.Met1757Val
ENST00000493919.6:c.1897A>G	ENSP00000418819.2:p.Met633Val
ENST00000494123.6:c.5347A>G	ENSP00000419103.2:p.Met1783Val
ENST00000497488.2:c.4459A>G	ENSP00000418986.2:p.Met1487Val
ENST00000618469.2:c.5347A>G	ENSP00000478114.2:p.Met1783Val
ENST00000634433.2:c.5224A>G	ENSP00000489431.2:p.Met1742Val
ENST00000644379.2:c.5413A>G	ENSP00000496570.2:p.Met1805Val
ENST00000644555.2:c.1897A>G	ENSP00000494614.2:p.Met633Val
ENST00000652672.2:c.5206A>G	ENSP00000498906.2:p.Met1736Val
ENST00000484087.6:c.1909A>G	ENSP00000419481.2:p.Met637Val
ENST00000700081.1:n.1230A>G
ENST00000357654.9:c.5347A>G MANE Select	ENSP00000350283.3:p.Met1783Val
ENST00000471181.7:c.5410A>G	ENSP00000418960.2:p.Met1804Val
ENST00000644379.1:c.1734A>G
ENST00000352993.7:c.1921A>G	ENSP00000312236.5:p.Met641Val
ENST00000357654.7:c.5347A>G	ENSP00000350283.3:p.Met1783Val
ENST00000461221.5:c.*5130A>G	ENSP00000418548.1:n.*5130A>G
ENST00000468300.5:c.2021-1477A>G	ENSP00000417148.1:n.2021-1477A>G
ENST00000471181.6:c.5410A>G	ENSP00000418960.2:p.Met1804Val
ENST00000491747.6:c.2035A>G	ENSP00000420705.2:p.Met679Val
ENST00000493795.5:c.5206A>G	ENSP00000418775.1:p.Met1736Val
ENST00000586385.5:c.277A>G	ENSP00000465818.1:p.Met93Val
ENST00000591534.5:c.820A>G	ENSP00000467329.1:p.Met274Val
ENST00000591849.5:c.46A>G	ENSP00000465347.1:p.Met16Val
NM_007294.3:c.5347A>G , LRG_292t1:c.5347A>G	NP_009225.1:p.Met1783Val
NM_007297.3:c.5206A>G	NP_009228.2:p.Met1736Val
NM_007298.3:c.2035A>G	NP_009229.2:p.Met679Val
NM_007299.3:c.2021-1477A>G	NP_009230.2:n.2021-1477A>G
NM_007300.3:c.5410A>G	NP_009231.2:p.Met1804Val
NR_027676.1:n.5483A>G
NM_007294.4:c.5347A>G MANE Select	NP_009225.1:p.Met1783Val
NM_007297.4:c.5206A>G	NP_009228.2:p.Met1736Val
NM_007299.4:c.2021-1477A>G	NP_009230.2:n.2021-1477A>G
NM_007300.4:c.5410A>G	NP_009231.2:p.Met1804Val
NR_027676.2:n.5524A>G