Canonical Allele Identifier: CA002976

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071232G>A , CM000679.2:g.43071232G>A	GRCh38
NC_000017.10:g.41223249G>A , CM000679.1:g.41223249G>A	GRCh37
NC_000017.9:g.38476775G>A	NCBI36
NG_005905.2:g.146752C>T , LRG_292:g.146752C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4679C>T	ENSP00000417241.2:p.Thr1560Ile
ENST00000470026.6:c.4682C>T	ENSP00000419274.2:p.Thr1561Ile
ENST00000473961.6:c.4556C>T	ENSP00000420201.2:p.Thr1519Ile
ENST00000476777.6:c.4676C>T	ENSP00000417554.2:p.Thr1559Ile
ENST00000477152.6:c.4604C>T	ENSP00000419988.2:p.Thr1535Ile
ENST00000478531.6:c.1370C>T	ENSP00000420412.2:p.Thr457Ile
ENST00000489037.2:c.4604C>T	ENSP00000420781.2:p.Thr1535Ile
ENST00000493919.6:c.1232C>T	ENSP00000418819.2:p.Thr411Ile
ENST00000494123.6:c.4682C>T	ENSP00000419103.2:p.Thr1561Ile
ENST00000497488.2:c.3794C>T	ENSP00000418986.2:p.Thr1265Ile
ENST00000618469.2:c.4682C>T	ENSP00000478114.2:p.Thr1561Ile
ENST00000634433.2:c.4559C>T	ENSP00000489431.2:p.Thr1520Ile
ENST00000644379.2:c.4748C>T	ENSP00000496570.2:p.Thr1583Ile
ENST00000644555.2:c.1232C>T	ENSP00000494614.2:p.Thr411Ile
ENST00000652672.2:c.4541C>T	ENSP00000498906.2:p.Thr1514Ile
ENST00000484087.6:c.1244C>T	ENSP00000419481.2:p.Thr415Ile
ENST00000700182.1:c.1289C>T	ENSP00000514849.1:p.Thr430Ile
ENST00000357654.9:c.4682C>T MANE Select	ENSP00000350283.3:p.Thr1561Ile
ENST00000471181.7:c.4745C>T	ENSP00000418960.2:p.Thr1582Ile
ENST00000644379.1:c.1069C>T
ENST00000352993.7:c.1256C>T	ENSP00000312236.5:p.Thr419Ile
ENST00000357654.7:c.4682C>T	ENSP00000350283.3:p.Thr1561Ile
ENST00000461221.5:c.*4465C>T	ENSP00000418548.1:n.*4465C>T
ENST00000468300.5:c.1370C>T	ENSP00000417148.1:p.Thr457Ile
ENST00000471181.6:c.4745C>T	ENSP00000418960.2:p.Thr1582Ile
ENST00000478531.5:c.1370C>T	ENSP00000420412.1:p.Thr457Ile
ENST00000484087.5:c.995C>T	ENSP00000419481.1:p.Thr332Ile
ENST00000491747.6:c.1370C>T	ENSP00000420705.2:p.Thr457Ile
ENST00000493795.5:c.4541C>T	ENSP00000418775.1:p.Thr1514Ile
ENST00000493919.5:c.1232C>T	ENSP00000418819.1:p.Thr411Ile
ENST00000586385.5:c.5-7281C>T	ENSP00000465818.1:n.5-7281C>T
ENST00000591534.5:c.155C>T	ENSP00000467329.1:p.Thr52Ile
ENST00000591849.5:c.-98-21042C>T	ENSP00000465347.1:n.-98-21042C>T
NM_007294.3:c.4682C>T , LRG_292t1:c.4682C>T	NP_009225.1:p.Thr1561Ile
NM_007297.3:c.4541C>T	NP_009228.2:p.Thr1514Ile
NM_007298.3:c.1370C>T	NP_009229.2:p.Thr457Ile
NM_007299.3:c.1370C>T	NP_009230.2:p.Thr457Ile
NM_007300.3:c.4745C>T	NP_009231.2:p.Thr1582Ile
NR_027676.1:n.4818C>T
NM_007294.4:c.4682C>T MANE Select	NP_009225.1:p.Thr1561Ile
NM_007297.4:c.4541C>T	NP_009228.2:p.Thr1514Ile
NM_007299.4:c.1370C>T	NP_009230.2:p.Thr457Ile
NM_007300.4:c.4745C>T	NP_009231.2:p.Thr1582Ile
NR_027676.2:n.4859C>T