Canonical Allele Identifier: CA10593185

Gene: BRCA1

Linked Data

• dbSNP Id: rs786202278
• MyVariant Identifiers: chr17:g.41234509G>T (hg19) ; chr17:g.43082492G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082492G>T , CM000679.2:g.43082492G>T	GRCh38
NC_000017.10:g.41234509G>T , CM000679.1:g.41234509G>T	GRCh37
NC_000017.9:g.38488035G>T	NCBI36
NG_005905.2:g.135492C>A , LRG_292:g.135492C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4269C>A	ENSP00000417241.2:p.Ser1423Arg
ENST00000470026.6:c.4269C>A	ENSP00000419274.2:p.Ser1423Arg
ENST00000473961.6:c.4143C>A	ENSP00000420201.2:p.Ser1381Arg
ENST00000476777.6:c.4263C>A	ENSP00000417554.2:p.Ser1421Arg
ENST00000477152.6:c.4191C>A	ENSP00000419988.2:p.Ser1397Arg
ENST00000478531.6:c.957C>A	ENSP00000420412.2:p.Ser319Arg
ENST00000489037.2:c.4191C>A	ENSP00000420781.2:p.Ser1397Arg
ENST00000493919.6:c.819C>A	ENSP00000418819.2:p.Ser273Arg
ENST00000494123.6:c.4269C>A	ENSP00000419103.2:p.Ser1423Arg
ENST00000497488.2:c.3381C>A	ENSP00000418986.2:p.Ser1127Arg
ENST00000618469.2:c.4269C>A	ENSP00000478114.2:p.Ser1423Arg
ENST00000634433.2:c.4146C>A	ENSP00000489431.2:p.Ser1382Arg
ENST00000644379.2:c.4269C>A	ENSP00000496570.2:p.Ser1423Arg
ENST00000644555.2:c.819C>A	ENSP00000494614.2:p.Ser273Arg
ENST00000652672.2:c.4128C>A	ENSP00000498906.2:p.Ser1376Arg
ENST00000484087.6:c.834C>A	ENSP00000419481.2:p.Ser278Arg
ENST00000700182.1:c.879C>A	ENSP00000514849.1:p.Ser293Arg
ENST00000357654.9:c.4269C>A MANE Select	ENSP00000350283.3:p.Ser1423Arg
ENST00000471181.7:c.4269C>A	ENSP00000418960.2:p.Ser1423Arg
ENST00000644379.1:c.590C>A
ENST00000352993.7:c.843C>A	ENSP00000312236.5:p.Ser281Arg
ENST00000357654.7:c.4269C>A	ENSP00000350283.3:p.Ser1423Arg
ENST00000461221.5:c.*4052C>A	ENSP00000418548.1:n.*4052C>A
ENST00000461574.1:c.563C>A
ENST00000468300.5:c.960C>A	ENSP00000417148.1:p.Ser320Arg
ENST00000471181.6:c.4269C>A	ENSP00000418960.2:p.Ser1423Arg
ENST00000478531.5:c.957C>A	ENSP00000420412.1:p.Ser319Arg
ENST00000484087.5:c.582C>A	ENSP00000419481.1:p.Ser194Arg
ENST00000487825.5:c.585C>A	ENSP00000418212.1:p.Ser195Arg
ENST00000491747.6:c.960C>A	ENSP00000420705.2:p.Ser320Arg
ENST00000493795.5:c.4128C>A	ENSP00000418775.1:p.Ser1376Arg
ENST00000493919.5:c.819C>A	ENSP00000418819.1:p.Ser273Arg
ENST00000586385.5:c.5-18541C>A	ENSP00000465818.1:n.5-18541C>A
ENST00000591534.5:c.-43-7971C>A	ENSP00000467329.1:n.-43-7971C>A
ENST00000591849.5:c.-98-32302C>A	ENSP00000465347.1:n.-98-32302C>A
ENST00000621897.1:n.163C>A
NM_007294.3:c.4269C>A , LRG_292t1:c.4269C>A	NP_009225.1:p.Ser1423Arg
NM_007297.3:c.4128C>A	NP_009228.2:p.Ser1376Arg
NM_007298.3:c.960C>A	NP_009229.2:p.Ser320Arg
NM_007299.3:c.960C>A	NP_009230.2:p.Ser320Arg
NM_007300.3:c.4269C>A	NP_009231.2:p.Ser1423Arg
NR_027676.1:n.4405C>A
NM_007294.4:c.4269C>A MANE Select	NP_009225.1:p.Ser1423Arg
NM_007297.4:c.4128C>A	NP_009228.2:p.Ser1376Arg
NM_007299.4:c.960C>A	NP_009230.2:p.Ser320Arg
NM_007300.4:c.4269C>A	NP_009231.2:p.Ser1423Arg
NR_027676.2:n.4446C>A