Canonical Allele Identifier: CA10593138

Gene: BRCA1

Linked Data

• MyVariant Identifiers: chr17:g.41234487A>C (hg19) ; chr17:g.43082470A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082470A>C , CM000679.2:g.43082470A>C	GRCh38
NC_000017.10:g.41234487A>C , CM000679.1:g.41234487A>C	GRCh37
NC_000017.9:g.38488013A>C	NCBI36
NG_005905.2:g.135514T>G , LRG_292:g.135514T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4291T>G	ENSP00000417241.2:p.Ser1431Ala
ENST00000470026.6:c.4291T>G	ENSP00000419274.2:p.Ser1431Ala
ENST00000473961.6:c.4165T>G	ENSP00000420201.2:p.Ser1389Ala
ENST00000476777.6:c.4285T>G	ENSP00000417554.2:p.Ser1429Ala
ENST00000477152.6:c.4213T>G	ENSP00000419988.2:p.Ser1405Ala
ENST00000478531.6:c.979T>G	ENSP00000420412.2:p.Ser327Ala
ENST00000489037.2:c.4213T>G	ENSP00000420781.2:p.Ser1405Ala
ENST00000493919.6:c.841T>G	ENSP00000418819.2:p.Ser281Ala
ENST00000494123.6:c.4291T>G	ENSP00000419103.2:p.Ser1431Ala
ENST00000497488.2:c.3403T>G	ENSP00000418986.2:p.Ser1135Ala
ENST00000618469.2:c.4291T>G	ENSP00000478114.2:p.Ser1431Ala
ENST00000634433.2:c.4168T>G	ENSP00000489431.2:p.Ser1390Ala
ENST00000644379.2:c.4291T>G	ENSP00000496570.2:p.Ser1431Ala
ENST00000644555.2:c.841T>G	ENSP00000494614.2:p.Ser281Ala
ENST00000652672.2:c.4150T>G	ENSP00000498906.2:p.Ser1384Ala
ENST00000484087.6:c.856T>G	ENSP00000419481.2:p.Ser286Ala
ENST00000700182.1:c.901T>G	ENSP00000514849.1:p.Ser301Ala
ENST00000357654.9:c.4291T>G MANE Select	ENSP00000350283.3:p.Ser1431Ala
ENST00000471181.7:c.4291T>G	ENSP00000418960.2:p.Ser1431Ala
ENST00000644379.1:c.612T>G
ENST00000352993.7:c.865T>G	ENSP00000312236.5:p.Ser289Ala
ENST00000357654.7:c.4291T>G	ENSP00000350283.3:p.Ser1431Ala
ENST00000461221.5:c.*4074T>G	ENSP00000418548.1:n.*4074T>G
ENST00000461574.1:c.585T>G
ENST00000468300.5:c.982T>G	ENSP00000417148.1:p.Ser328Ala
ENST00000471181.6:c.4291T>G	ENSP00000418960.2:p.Ser1431Ala
ENST00000478531.5:c.979T>G	ENSP00000420412.1:p.Ser327Ala
ENST00000484087.5:c.604T>G	ENSP00000419481.1:p.Ser202Ala
ENST00000487825.5:c.607T>G	ENSP00000418212.1:p.Ser203Ala
ENST00000491747.6:c.982T>G	ENSP00000420705.2:p.Ser328Ala
ENST00000493795.5:c.4150T>G	ENSP00000418775.1:p.Ser1384Ala
ENST00000493919.5:c.841T>G	ENSP00000418819.1:p.Ser281Ala
ENST00000586385.5:c.5-18519T>G	ENSP00000465818.1:n.5-18519T>G
ENST00000591534.5:c.-43-7949T>G	ENSP00000467329.1:n.-43-7949T>G
ENST00000591849.5:c.-98-32280T>G	ENSP00000465347.1:n.-98-32280T>G
ENST00000621897.1:n.185T>G
NM_007294.3:c.4291T>G , LRG_292t1:c.4291T>G	NP_009225.1:p.Ser1431Ala
NM_007297.3:c.4150T>G	NP_009228.2:p.Ser1384Ala
NM_007298.3:c.982T>G	NP_009229.2:p.Ser328Ala
NM_007299.3:c.982T>G	NP_009230.2:p.Ser328Ala
NM_007300.3:c.4291T>G	NP_009231.2:p.Ser1431Ala
NR_027676.1:n.4427T>G
NM_007294.4:c.4291T>G MANE Select	NP_009225.1:p.Ser1431Ala
NM_007297.4:c.4150T>G	NP_009228.2:p.Ser1384Ala
NM_007299.4:c.982T>G	NP_009230.2:p.Ser328Ala
NM_007300.4:c.4291T>G	NP_009231.2:p.Ser1431Ala
NR_027676.2:n.4468T>G