Canonical Allele Identifier: CA10592162

Gene: BRCA1

Linked Data - Predicted Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074331C>A , CM000679.2:g.43074331C>A	GRCh38
NC_000017.10:g.41226348C>A , CM000679.1:g.41226348C>A	GRCh37
NC_000017.9:g.38479874C>A	NCBI36
NG_005905.2:g.143653G>T , LRG_292:g.143653G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4672G>T	ENSP00000417241.2:p.Glu1558Ter
ENST00000470026.6:c.4675G>T	ENSP00000419274.2:p.Glu1559Ter
ENST00000473961.6:c.4549G>T	ENSP00000420201.2:p.Glu1517Ter
ENST00000476777.6:c.4669G>T	ENSP00000417554.2:p.Glu1557Ter
ENST00000477152.6:c.4597G>T	ENSP00000419988.2:p.Glu1533Ter
ENST00000478531.6:c.1363G>T	ENSP00000420412.2:p.Glu455Ter
ENST00000489037.2:c.4597G>T	ENSP00000420781.2:p.Glu1533Ter
ENST00000493919.6:c.1225G>T	ENSP00000418819.2:p.Glu409Ter
ENST00000494123.6:c.4675G>T	ENSP00000419103.2:p.Glu1559Ter
ENST00000497488.2:c.3787G>T	ENSP00000418986.2:p.Glu1263Ter
ENST00000618469.2:c.4675G>T	ENSP00000478114.2:p.Glu1559Ter
ENST00000634433.2:c.4552G>T	ENSP00000489431.2:p.Glu1518Ter
ENST00000644379.2:c.4741G>T	ENSP00000496570.2:p.Glu1581Ter
ENST00000644555.2:c.1225G>T	ENSP00000494614.2:p.Glu409Ter
ENST00000652672.2:c.4534G>T	ENSP00000498906.2:p.Glu1512Ter
ENST00000484087.6:c.1237G>T	ENSP00000419481.2:p.Glu413Ter
ENST00000700182.1:c.1282G>T	ENSP00000514849.1:p.Glu428Ter
ENST00000357654.9:c.4675G>T MANE Select	ENSP00000350283.3:p.Glu1559Ter
ENST00000471181.7:c.4738G>T	ENSP00000418960.2:p.Glu1580Ter
ENST00000644379.1:c.1062G>T
ENST00000352993.7:c.1249G>T	ENSP00000312236.5:p.Glu417Ter
ENST00000357654.7:c.4675G>T	ENSP00000350283.3:p.Glu1559Ter
ENST00000461221.5:c.*4458G>T	ENSP00000418548.1:n.*4458G>T
ENST00000468300.5:c.1363G>T	ENSP00000417148.1:p.Glu455Ter
ENST00000471181.6:c.4738G>T	ENSP00000418960.2:p.Glu1580Ter
ENST00000478531.5:c.1363G>T	ENSP00000420412.1:p.Glu455Ter
ENST00000484087.5:c.988G>T	ENSP00000419481.1:p.Glu330Ter
ENST00000491747.6:c.1363G>T	ENSP00000420705.2:p.Glu455Ter
ENST00000493795.5:c.4534G>T	ENSP00000418775.1:p.Glu1512Ter
ENST00000493919.5:c.1225G>T	ENSP00000418819.1:p.Glu409Ter
ENST00000586385.5:c.5-10380G>T	ENSP00000465818.1:n.5-10380G>T
ENST00000591534.5:c.148G>T	ENSP00000467329.1:p.Glu50Ter
ENST00000591849.5:c.-98-24141G>T	ENSP00000465347.1:n.-98-24141G>T
NM_007294.3:c.4675G>T , LRG_292t1:c.4675G>T	NP_009225.1:p.Glu1559Ter
NM_007297.3:c.4534G>T	NP_009228.2:p.Glu1512Ter
NM_007298.3:c.1363G>T	NP_009229.2:p.Glu455Ter
NM_007299.3:c.1363G>T	NP_009230.2:p.Glu455Ter
NM_007300.3:c.4738G>T	NP_009231.2:p.Glu1580Ter
NR_027676.1:n.4811G>T
NM_007294.4:c.4675G>T MANE Select	NP_009225.1:p.Glu1559Ter
NM_007297.4:c.4534G>T	NP_009228.2:p.Glu1512Ter
NM_007299.4:c.1363G>T	NP_009230.2:p.Glu455Ter
NM_007300.4:c.4738G>T	NP_009231.2:p.Glu1580Ter
NR_027676.2:n.4852G>T