Canonical Allele Identifier: CA913187741

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 628448
• ClinVar RCV Id: RCV000772917
• dbSNP Id: rs1567759433

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43049444C>G , CM000679.2:g.43049444C>G	GRCh38
NC_000017.10:g.41201461C>G , CM000679.1:g.41201461C>G	GRCh37
NC_000017.9:g.38454987C>G	NCBI36
NG_005905.2:g.168540G>C , LRG_292:g.168540G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5330-250G>C	ENSP00000417241.2:n.5330-250G>C
ENST00000470026.6:c.5333-250G>C	ENSP00000419274.2:n.5333-250G>C
ENST00000473961.6:c.5207-250G>C	ENSP00000420201.2:n.5207-250G>C
ENST00000476777.6:c.5327-250G>C	ENSP00000417554.2:n.5327-250G>C
ENST00000477152.6:c.5255-250G>C	ENSP00000419988.2:n.5255-250G>C
ENST00000478531.6:c.2021-250G>C	ENSP00000420412.2:n.2021-250G>C
ENST00000489037.2:c.5255-250G>C	ENSP00000420781.2:n.5255-250G>C
ENST00000493919.6:c.1883-250G>C	ENSP00000418819.2:n.1883-250G>C
ENST00000494123.6:c.5333-250G>C	ENSP00000419103.2:n.5333-250G>C
ENST00000497488.2:c.4445-250G>C	ENSP00000418986.2:n.4445-250G>C
ENST00000618469.2:c.5333-250G>C	ENSP00000478114.2:n.5333-250G>C
ENST00000634433.2:c.5210-250G>C	ENSP00000489431.2:n.5210-250G>C
ENST00000644379.2:c.5399-250G>C	ENSP00000496570.2:n.5399-250G>C
ENST00000644555.2:c.1883-250G>C	ENSP00000494614.2:n.1883-250G>C
ENST00000652672.2:c.5192-250G>C	ENSP00000498906.2:n.5192-250G>C
ENST00000484087.6:c.1895-250G>C	ENSP00000419481.2:n.1895-250G>C
ENST00000700081.1:n.966G>C
ENST00000357654.9:c.5333-250G>C MANE Select	ENSP00000350283.3:n.5333-250G>C
ENST00000471181.7:c.5396-250G>C	ENSP00000418960.2:n.5396-250G>C
ENST00000644379.1:c.1720-250G>C
ENST00000352993.7:c.1907-250G>C	ENSP00000312236.5:n.1907-250G>C
ENST00000357654.7:c.5333-250G>C	ENSP00000350283.3:n.5333-250G>C
ENST00000461221.5:c.*5116-250G>C	ENSP00000418548.1:n.*5116-250G>C
ENST00000468300.5:c.2020+1619G>C	ENSP00000417148.1:n.2020+1619G>C
ENST00000471181.6:c.5396-250G>C	ENSP00000418960.2:n.5396-250G>C
ENST00000491747.6:c.2021-250G>C	ENSP00000420705.2:n.2021-250G>C
ENST00000493795.5:c.5192-250G>C	ENSP00000418775.1:n.5192-250G>C
ENST00000586385.5:c.263-250G>C	ENSP00000465818.1:n.263-250G>C
ENST00000591534.5:c.806-250G>C	ENSP00000467329.1:n.806-250G>C
ENST00000591849.5:c.32-250G>C	ENSP00000465347.1:n.32-250G>C
NM_007294.3:c.5333-250G>C , LRG_292t1:c.5333-250G>C	NP_009225.1:n.5333-250G>C
NM_007297.3:c.5192-250G>C	NP_009228.2:n.5192-250G>C
NM_007298.3:c.2021-250G>C	NP_009229.2:n.2021-250G>C
NM_007299.3:c.2020+1619G>C	NP_009230.2:n.2020+1619G>C
NM_007300.3:c.5396-250G>C	NP_009231.2:n.5396-250G>C
NR_027676.1:n.5469-250G>C
NM_007294.4:c.5333-250G>C MANE Select	NP_009225.1:n.5333-250G>C
NM_007297.4:c.5192-250G>C	NP_009228.2:n.5192-250G>C
NM_007299.4:c.2020+1619G>C	NP_009230.2:n.2020+1619G>C
NM_007300.4:c.5396-250G>C	NP_009231.2:n.5396-250G>C
NR_027676.2:n.5510-250G>C