Canonical Allele Identifier: CA2594156507

Gene: BRCA1

Linked Data

• dbSNP Id: rs2153577265
• gnomAD v3: 17-43063712-A-G
• gnomAD v4: 17-43063712-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063712A>G , CM000679.2:g.43063712A>G	GRCh38
NC_000017.10:g.41215729A>G , CM000679.1:g.41215729A>G	GRCh37
NC_000017.9:g.38469255A>G	NCBI36
NG_005905.2:g.154272T>C , LRG_292:g.154272T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5149+162T>C	ENSP00000417241.2:n.5149+162T>C
ENST00000470026.6:c.5152+162T>C	ENSP00000419274.2:n.5152+162T>C
ENST00000473961.6:c.5026+162T>C	ENSP00000420201.2:n.5026+162T>C
ENST00000476777.6:c.5146+162T>C	ENSP00000417554.2:n.5146+162T>C
ENST00000477152.6:c.5074+162T>C	ENSP00000419988.2:n.5074+162T>C
ENST00000478531.6:c.1840+162T>C	ENSP00000420412.2:n.1840+162T>C
ENST00000489037.2:c.5074+162T>C	ENSP00000420781.2:n.5074+162T>C
ENST00000493919.6:c.1702+162T>C	ENSP00000418819.2:n.1702+162T>C
ENST00000494123.6:c.5152+162T>C	ENSP00000419103.2:n.5152+162T>C
ENST00000497488.2:c.4264+162T>C	ENSP00000418986.2:n.4264+162T>C
ENST00000618469.2:c.5152+162T>C	ENSP00000478114.2:n.5152+162T>C
ENST00000634433.2:c.5029+162T>C	ENSP00000489431.2:n.5029+162T>C
ENST00000644379.2:c.5218+162T>C	ENSP00000496570.2:n.5218+162T>C
ENST00000644555.2:c.1702+162T>C	ENSP00000494614.2:n.1702+162T>C
ENST00000652672.2:c.5011+162T>C	ENSP00000498906.2:n.5011+162T>C
ENST00000484087.6:c.1714+162T>C	ENSP00000419481.2:n.1714+162T>C
ENST00000357654.9:c.5152+162T>C MANE Select	ENSP00000350283.3:n.5152+162T>C
ENST00000471181.7:c.5215+162T>C	ENSP00000418960.2:n.5215+162T>C
ENST00000644379.1:c.1539+162T>C
ENST00000352993.7:c.1726+162T>C	ENSP00000312236.5:n.1726+162T>C
ENST00000357654.7:c.5152+162T>C	ENSP00000350283.3:n.5152+162T>C
ENST00000461221.5:c.*4935+162T>C	ENSP00000418548.1:n.*4935+162T>C
ENST00000468300.5:c.1840+162T>C	ENSP00000417148.1:n.1840+162T>C
ENST00000471181.6:c.5215+162T>C	ENSP00000418960.2:n.5215+162T>C
ENST00000478531.5:c.1840+162T>C	ENSP00000420412.1:n.1840+162T>C
ENST00000484087.5:c.1465+162T>C	ENSP00000419481.1:n.1465+162T>C
ENST00000491747.6:c.1840+162T>C	ENSP00000420705.2:n.1840+162T>C
ENST00000493795.5:c.5011+162T>C	ENSP00000418775.1:n.5011+162T>C
ENST00000493919.5:c.1702+162T>C	ENSP00000418819.1:n.1702+162T>C
ENST00000586385.5:c.82+162T>C	ENSP00000465818.1:n.82+162T>C
ENST00000591534.5:c.625+162T>C	ENSP00000467329.1:n.625+162T>C
ENST00000591849.5:c.-98-13522T>C	ENSP00000465347.1:n.-98-13522T>C
NM_007294.3:c.5152+162T>C , LRG_292t1:c.5152+162T>C	NP_009225.1:n.5152+162T>C
NM_007297.3:c.5011+162T>C	NP_009228.2:n.5011+162T>C
NM_007298.3:c.1840+162T>C	NP_009229.2:n.1840+162T>C
NM_007299.3:c.1840+162T>C	NP_009230.2:n.1840+162T>C
NM_007300.3:c.5215+162T>C	NP_009231.2:n.5215+162T>C
NR_027676.1:n.5288+162T>C
NM_007294.4:c.5152+162T>C MANE Select	NP_009225.1:n.5152+162T>C
NM_007297.4:c.5011+162T>C	NP_009228.2:n.5011+162T>C
NM_007299.4:c.1840+162T>C	NP_009230.2:n.1840+162T>C
NM_007300.4:c.5215+162T>C	NP_009231.2:n.5215+162T>C
NR_027676.2:n.5329+162T>C