Canonical Allele Identifier: CA10593188

Gene: BRCA1

Linked Data

• MyVariant Identifiers: chr17:g.41234511T>A (hg19) ; chr17:g.43082494T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082494T>A , CM000679.2:g.43082494T>A	GRCh38
NC_000017.10:g.41234511T>A , CM000679.1:g.41234511T>A	GRCh37
NC_000017.9:g.38488037T>A	NCBI36
NG_005905.2:g.135490A>T , LRG_292:g.135490A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4267A>T	ENSP00000417241.2:p.Ser1423Cys
ENST00000470026.6:c.4267A>T	ENSP00000419274.2:p.Ser1423Cys
ENST00000473961.6:c.4141A>T	ENSP00000420201.2:p.Ser1381Cys
ENST00000476777.6:c.4261A>T	ENSP00000417554.2:p.Ser1421Cys
ENST00000477152.6:c.4189A>T	ENSP00000419988.2:p.Ser1397Cys
ENST00000478531.6:c.955A>T	ENSP00000420412.2:p.Ser319Cys
ENST00000489037.2:c.4189A>T	ENSP00000420781.2:p.Ser1397Cys
ENST00000493919.6:c.817A>T	ENSP00000418819.2:p.Ser273Cys
ENST00000494123.6:c.4267A>T	ENSP00000419103.2:p.Ser1423Cys
ENST00000497488.2:c.3379A>T	ENSP00000418986.2:p.Ser1127Cys
ENST00000618469.2:c.4267A>T	ENSP00000478114.2:p.Ser1423Cys
ENST00000634433.2:c.4144A>T	ENSP00000489431.2:p.Ser1382Cys
ENST00000644379.2:c.4267A>T	ENSP00000496570.2:p.Ser1423Cys
ENST00000644555.2:c.817A>T	ENSP00000494614.2:p.Ser273Cys
ENST00000652672.2:c.4126A>T	ENSP00000498906.2:p.Ser1376Cys
ENST00000484087.6:c.832A>T	ENSP00000419481.2:p.Ser278Cys
ENST00000700182.1:c.877A>T	ENSP00000514849.1:p.Ser293Cys
ENST00000357654.9:c.4267A>T MANE Select	ENSP00000350283.3:p.Ser1423Cys
ENST00000471181.7:c.4267A>T	ENSP00000418960.2:p.Ser1423Cys
ENST00000644379.1:c.588A>T
ENST00000352993.7:c.841A>T	ENSP00000312236.5:p.Ser281Cys
ENST00000357654.7:c.4267A>T	ENSP00000350283.3:p.Ser1423Cys
ENST00000461221.5:c.*4050A>T	ENSP00000418548.1:n.*4050A>T
ENST00000461574.1:c.561A>T
ENST00000468300.5:c.958A>T	ENSP00000417148.1:p.Ser320Cys
ENST00000471181.6:c.4267A>T	ENSP00000418960.2:p.Ser1423Cys
ENST00000478531.5:c.955A>T	ENSP00000420412.1:p.Ser319Cys
ENST00000484087.5:c.580A>T	ENSP00000419481.1:p.Ser194Cys
ENST00000487825.5:c.583A>T	ENSP00000418212.1:p.Ser195Cys
ENST00000491747.6:c.958A>T	ENSP00000420705.2:p.Ser320Cys
ENST00000493795.5:c.4126A>T	ENSP00000418775.1:p.Ser1376Cys
ENST00000493919.5:c.817A>T	ENSP00000418819.1:p.Ser273Cys
ENST00000586385.5:c.5-18543A>T	ENSP00000465818.1:n.5-18543A>T
ENST00000591534.5:c.-43-7973A>T	ENSP00000467329.1:n.-43-7973A>T
ENST00000591849.5:c.-98-32304A>T	ENSP00000465347.1:n.-98-32304A>T
ENST00000621897.1:n.161A>T
NM_007294.3:c.4267A>T , LRG_292t1:c.4267A>T	NP_009225.1:p.Ser1423Cys
NM_007297.3:c.4126A>T	NP_009228.2:p.Ser1376Cys
NM_007298.3:c.958A>T	NP_009229.2:p.Ser320Cys
NM_007299.3:c.958A>T	NP_009230.2:p.Ser320Cys
NM_007300.3:c.4267A>T	NP_009231.2:p.Ser1423Cys
NR_027676.1:n.4403A>T
NM_007294.4:c.4267A>T MANE Select	NP_009225.1:p.Ser1423Cys
NM_007297.4:c.4126A>T	NP_009228.2:p.Ser1376Cys
NM_007299.4:c.958A>T	NP_009230.2:p.Ser320Cys
NM_007300.4:c.4267A>T	NP_009231.2:p.Ser1423Cys
NR_027676.2:n.4444A>T