Canonical Allele Identifier: CA10600354
Gene: BRCA1 HGNC NCBI

Linked Data

dbSNP Id: rs1597879544

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43094669T>A , CM000679.2:g.43094669T>A GRCh38
NC_000017.10:g.41246686T>A , CM000679.1:g.41246686T>A GRCh37
NC_000017.9:g.38500212T>A NCBI36
NG_005905.2:g.123315A>T , LRG_292:g.123315A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.926A>T
ENST00000461574.2:c.862A>T ENSP00000417241.2:p.Ser288Cys
ENST00000470026.6:c.862A>T ENSP00000419274.2:p.Ser288Cys
ENST00000473961.6:c.736A>T ENSP00000420201.2:p.Ser246Cys
ENST00000476777.6:c.859A>T ENSP00000417554.2:p.Ser287Cys
ENST00000477152.6:c.784A>T ENSP00000419988.2:p.Ser262Cys
ENST00000478531.6:c.784+75A>T ENSP00000420412.2:n.784+75A>T
ENST00000489037.2:c.784A>T ENSP00000420781.2:p.Ser262Cys
ENST00000493919.6:c.646+75A>T ENSP00000418819.2:n.646+75A>T
ENST00000494123.6:c.862A>T ENSP00000419103.2:p.Ser288Cys
ENST00000497488.2:c.-27A>T ENSP00000418986.2:n.-27A>T
ENST00000618469.2:c.862A>T ENSP00000478114.2:p.Ser288Cys
ENST00000634433.2:c.739A>T ENSP00000489431.2:p.Ser247Cys
ENST00000644379.2:c.862A>T ENSP00000496570.2:p.Ser288Cys
ENST00000644555.2:c.646+75A>T ENSP00000494614.2:n.646+75A>T
ENST00000652672.2:c.721A>T ENSP00000498906.2:p.Ser241Cys
ENST00000484087.6:c.664+75A>T ENSP00000419481.2:n.664+75A>T
ENST00000700182.1:c.706+75A>T ENSP00000514849.1:n.706+75A>T
ENST00000700183.1:c.*870A>T ENSP00000514850.1:n.*870A>T
ENST00000357654.9:c.862A>T MANE Select ENSP00000350283.3:p.Ser288Cys
ENST00000471181.7:c.862A>T ENSP00000418960.2:p.Ser288Cys
ENST00000642945.1:c.*736A>T ENSP00000495897.1:n.*736A>T
ENST00000652672.1:c.721A>T ENSP00000498906.1:p.Ser241Cys
ENST00000352993.7:c.670+1177A>T ENSP00000312236.5:n.670+1177A>T
ENST00000354071.7:c.862A>T ENSP00000326002.7:p.Ser288Cys
ENST00000357654.7:c.862A>T ENSP00000350283.3:p.Ser288Cys
ENST00000412061.3:c.213A>T
ENST00000461221.5:c.*645A>T ENSP00000418548.1:n.*645A>T
ENST00000468300.5:c.787+75A>T ENSP00000417148.1:n.787+75A>T
ENST00000470026.5:c.862A>T ENSP00000419274.1:p.Ser288Cys
ENST00000471181.6:c.862A>T ENSP00000418960.2:p.Ser288Cys
ENST00000473961.5:c.459A>T
ENST00000477152.5:c.784A>T ENSP00000419988.1:p.Ser262Cys
ENST00000478531.5:c.784+75A>T ENSP00000420412.1:n.784+75A>T
ENST00000484087.5:c.409+75A>T ENSP00000419481.1:n.409+75A>T
ENST00000487825.5:c.412+75A>T ENSP00000418212.1:n.412+75A>T
ENST00000491747.6:c.787+75A>T ENSP00000420705.2:n.787+75A>T
ENST00000492859.5:c.*798A>T ENSP00000420253.1:n.*798A>T
ENST00000493795.5:c.721A>T ENSP00000418775.1:p.Ser241Cys
ENST00000493919.5:c.646+75A>T ENSP00000418819.1:n.646+75A>T
ENST00000494123.5:c.862A>T ENSP00000419103.1:p.Ser288Cys
ENST00000497488.1:c.-27A>T ENSP00000418986.1:n.-27A>T
ENST00000586385.5:c.4+30513A>T ENSP00000465818.1:n.4+30513A>T
ENST00000591534.5:c.-43-20148A>T ENSP00000467329.1:n.-43-20148A>T
ENST00000591849.5:c.-99+30602A>T ENSP00000465347.1:n.-99+30602A>T
ENST00000634433.1:c.739A>T ENSP00000489431.1:p.Ser247Cys
NM_007294.3:c.862A>T , LRG_292t1:c.862A>T NP_009225.1:p.Ser288Cys
NM_007297.3:c.721A>T NP_009228.2:p.Ser241Cys
NM_007298.3:c.787+75A>T NP_009229.2:n.787+75A>T
NM_007299.3:c.787+75A>T NP_009230.2:n.787+75A>T
NM_007300.3:c.862A>T NP_009231.2:p.Ser288Cys
NR_027676.1:n.998A>T
NM_007294.4:c.862A>T MANE Select NP_009225.1:p.Ser288Cys
NM_007297.4:c.721A>T NP_009228.2:p.Ser241Cys
NM_007299.4:c.787+75A>T NP_009230.2:n.787+75A>T
NM_007300.4:c.862A>T NP_009231.2:p.Ser288Cys
NR_027676.2:n.1039A>T