Canonical Allele Identifier: CA2638036159

Gene: BRCA1

Linked Data

• gnomAD v4: 17-43045451-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045451A>G , CM000679.2:g.43045451A>G	GRCh38
NC_000017.10:g.41197468A>G , CM000679.1:g.41197468A>G	GRCh37
NC_000017.9:g.38450994A>G	NCBI36
NG_005905.2:g.172533T>C , LRG_292:g.172533T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.*227T>C	ENSP00000417241.2:n.*227T>C
ENST00000470026.6:c.*227T>C	ENSP00000419274.2:n.*227T>C
ENST00000473961.6:c.*227T>C	ENSP00000420201.2:n.*227T>C
ENST00000476777.6:c.*227T>C	ENSP00000417554.2:n.*227T>C
ENST00000477152.6:c.*227T>C	ENSP00000419988.2:n.*227T>C
ENST00000478531.6:c.*227T>C	ENSP00000420412.2:n.*227T>C
ENST00000489037.2:c.*227T>C	ENSP00000420781.2:n.*227T>C
ENST00000493919.6:c.*227T>C	ENSP00000418819.2:n.*227T>C
ENST00000494123.6:c.*227T>C	ENSP00000419103.2:n.*227T>C
ENST00000497488.2:c.*227T>C	ENSP00000418986.2:n.*227T>C
ENST00000618469.2:c.*227T>C	ENSP00000478114.2:n.*227T>C
ENST00000634433.2:c.*227T>C	ENSP00000489431.2:n.*227T>C
ENST00000644379.2:c.*227T>C	ENSP00000496570.2:n.*227T>C
ENST00000644555.2:c.*227T>C	ENSP00000494614.2:n.*227T>C
ENST00000652672.2:c.*227T>C	ENSP00000498906.2:n.*227T>C
ENST00000484087.6:c.*227T>C	ENSP00000419481.2:n.*227T>C
ENST00000700081.1:n.1702T>C
ENST00000700082.1:n.1183T>C
ENST00000357654.9:c.*227T>C MANE Select	ENSP00000350283.3:n.*227T>C
ENST00000471181.7:c.*227T>C	ENSP00000418960.2:n.*227T>C
ENST00000644379.1:c.2206T>C
ENST00000352993.7:c.*227T>C	ENSP00000312236.5:n.*227T>C
ENST00000357654.7:c.*227T>C	ENSP00000350283.3:n.*227T>C
ENST00000468300.5:c.*333T>C	ENSP00000417148.1:n.*333T>C
NM_007294.3:c.*227T>C , LRG_292t1:c.*227T>C	NP_009225.1:n.*227T>C
NM_007297.3:c.*227T>C	NP_009228.2:n.*227T>C
NM_007298.3:c.*227T>C	NP_009229.2:n.*227T>C
NM_007299.3:c.*333T>C	NP_009230.2:n.*333T>C
NM_007300.3:c.*227T>C	NP_009231.2:n.*227T>C
NR_027676.1:n.5955T>C
NM_007294.4:c.*227T>C MANE Select	NP_009225.1:n.*227T>C
NM_007297.4:c.*227T>C	NP_009228.2:n.*227T>C
NM_007299.4:c.*333T>C	NP_009230.2:n.*333T>C
NM_007300.4:c.*227T>C	NP_009231.2:n.*227T>C
NR_027676.2:n.5996T>C