Canonical Allele Identifier: CA060242

Gene: BRCA1

Linked Data

• dbSNP Id: rs751327778
• ExAC: 17:41197597 A / C
• gnomAD v2: 17-41197597-A-C
• gnomAD v4: 17-43045580-A-C
• MyVariant Identifiers: chr17:g.41197597A>C (hg19) ; chr17:g.43045580A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045580A>C , CM000679.2:g.43045580A>C	GRCh38
NC_000017.10:g.41197597A>C , CM000679.1:g.41197597A>C	GRCh37
NC_000017.9:g.38451123A>C	NCBI36
NG_005905.2:g.172404T>G , LRG_292:g.172404T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.*98T>G	ENSP00000417241.2:n.*98T>G
ENST00000470026.6:c.*98T>G	ENSP00000419274.2:n.*98T>G
ENST00000473961.6:c.*98T>G	ENSP00000420201.2:n.*98T>G
ENST00000476777.6:c.*98T>G	ENSP00000417554.2:n.*98T>G
ENST00000477152.6:c.*98T>G	ENSP00000419988.2:n.*98T>G
ENST00000478531.6:c.*98T>G	ENSP00000420412.2:n.*98T>G
ENST00000489037.2:c.*98T>G	ENSP00000420781.2:n.*98T>G
ENST00000493919.6:c.*98T>G	ENSP00000418819.2:n.*98T>G
ENST00000494123.6:c.*98T>G	ENSP00000419103.2:n.*98T>G
ENST00000497488.2:c.*98T>G	ENSP00000418986.2:n.*98T>G
ENST00000618469.2:c.*98T>G	ENSP00000478114.2:n.*98T>G
ENST00000634433.2:c.*98T>G	ENSP00000489431.2:n.*98T>G
ENST00000644379.2:c.*98T>G	ENSP00000496570.2:n.*98T>G
ENST00000644555.2:c.*98T>G	ENSP00000494614.2:n.*98T>G
ENST00000652672.2:c.*98T>G	ENSP00000498906.2:n.*98T>G
ENST00000484087.6:c.*98T>G	ENSP00000419481.2:n.*98T>G
ENST00000700081.1:n.1573T>G
ENST00000700082.1:n.1054T>G
ENST00000357654.9:c.*98T>G MANE Select	ENSP00000350283.3:n.*98T>G
ENST00000471181.7:c.*98T>G	ENSP00000418960.2:n.*98T>G
ENST00000644379.1:c.2077T>G
ENST00000352993.7:c.*98T>G	ENSP00000312236.5:n.*98T>G
ENST00000357654.7:c.*98T>G	ENSP00000350283.3:n.*98T>G
ENST00000468300.5:c.*204T>G	ENSP00000417148.1:n.*204T>G
ENST00000586385.5:c.*98T>G	ENSP00000465818.1:n.*98T>G
ENST00000591534.5:c.*98T>G	ENSP00000467329.1:n.*98T>G
ENST00000591849.5:c.*98T>G	ENSP00000465347.1:n.*98T>G
NM_007294.3:c.*98T>G , LRG_292t1:c.*98T>G	NP_009225.1:n.*98T>G
NM_007297.3:c.*98T>G	NP_009228.2:n.*98T>G
NM_007298.3:c.*98T>G	NP_009229.2:n.*98T>G
NM_007299.3:c.*204T>G	NP_009230.2:n.*204T>G
NM_007300.3:c.*98T>G	NP_009231.2:n.*98T>G
NR_027676.1:n.5826T>G
NM_007294.4:c.*98T>G MANE Select	NP_009225.1:n.*98T>G
NM_007297.4:c.*98T>G	NP_009228.2:n.*98T>G
NM_007299.4:c.*204T>G	NP_009230.2:n.*204T>G
NM_007300.4:c.*98T>G	NP_009231.2:n.*98T>G
NR_027676.2:n.5867T>G