Canonical Allele Identifier: CA003251

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063904C>T , CM000679.2:g.43063904C>T	GRCh38
NC_000017.10:g.41215921C>T , CM000679.1:g.41215921C>T	GRCh37
NC_000017.9:g.38469447C>T	NCBI36
NG_005905.2:g.154080G>A , LRG_292:g.154080G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5119G>A	ENSP00000417241.2:p.Ala1707Thr
ENST00000470026.6:c.5122G>A	ENSP00000419274.2:p.Ala1708Thr
ENST00000473961.6:c.4996G>A	ENSP00000420201.2:p.Ala1666Thr
ENST00000476777.6:c.5116G>A	ENSP00000417554.2:p.Ala1706Thr
ENST00000477152.6:c.5044G>A	ENSP00000419988.2:p.Ala1682Thr
ENST00000478531.6:c.1810G>A	ENSP00000420412.2:p.Ala604Thr
ENST00000489037.2:c.5044G>A	ENSP00000420781.2:p.Ala1682Thr
ENST00000493919.6:c.1672G>A	ENSP00000418819.2:p.Ala558Thr
ENST00000494123.6:c.5122G>A	ENSP00000419103.2:p.Ala1708Thr
ENST00000497488.2:c.4234G>A	ENSP00000418986.2:p.Ala1412Thr
ENST00000618469.2:c.5122G>A	ENSP00000478114.2:p.Ala1708Thr
ENST00000634433.2:c.4999G>A	ENSP00000489431.2:p.Ala1667Thr
ENST00000644379.2:c.5188G>A	ENSP00000496570.2:p.Ala1730Thr
ENST00000644555.2:c.1672G>A	ENSP00000494614.2:p.Ala558Thr
ENST00000652672.2:c.4981G>A	ENSP00000498906.2:p.Ala1661Thr
ENST00000484087.6:c.1684G>A	ENSP00000419481.2:p.Ala562Thr
ENST00000357654.9:c.5122G>A MANE Select	ENSP00000350283.3:p.Ala1708Thr
ENST00000471181.7:c.5185G>A	ENSP00000418960.2:p.Ala1729Thr
ENST00000644379.1:c.1509G>A
ENST00000352993.7:c.1696G>A	ENSP00000312236.5:p.Ala566Thr
ENST00000357654.7:c.5122G>A	ENSP00000350283.3:p.Ala1708Thr
ENST00000461221.5:c.*4905G>A	ENSP00000418548.1:n.*4905G>A
ENST00000468300.5:c.1810G>A	ENSP00000417148.1:p.Ala604Thr
ENST00000471181.6:c.5185G>A	ENSP00000418960.2:p.Ala1729Thr
ENST00000478531.5:c.1810G>A	ENSP00000420412.1:p.Ala604Thr
ENST00000484087.5:c.1435G>A	ENSP00000419481.1:p.Ala479Thr
ENST00000491747.6:c.1810G>A	ENSP00000420705.2:p.Ala604Thr
ENST00000493795.5:c.4981G>A	ENSP00000418775.1:p.Ala1661Thr
ENST00000493919.5:c.1672G>A	ENSP00000418819.1:p.Ala558Thr
ENST00000586385.5:c.52G>A	ENSP00000465818.1:p.Ala18Thr
ENST00000591534.5:c.595G>A	ENSP00000467329.1:p.Ala199Thr
ENST00000591849.5:c.-98-13714G>A	ENSP00000465347.1:n.-98-13714G>A
NM_007294.3:c.5122G>A , LRG_292t1:c.5122G>A	NP_009225.1:p.Ala1708Thr
NM_007297.3:c.4981G>A	NP_009228.2:p.Ala1661Thr
NM_007298.3:c.1810G>A	NP_009229.2:p.Ala604Thr
NM_007299.3:c.1810G>A	NP_009230.2:p.Ala604Thr
NM_007300.3:c.5185G>A	NP_009231.2:p.Ala1729Thr
NR_027676.1:n.5258G>A
NM_007294.4:c.5122G>A MANE Select	NP_009225.1:p.Ala1708Thr
NM_007297.4:c.4981G>A	NP_009228.2:p.Ala1661Thr
NM_007299.4:c.1810G>A	NP_009230.2:p.Ala604Thr
NM_007300.4:c.5185G>A	NP_009231.2:p.Ala1729Thr
NR_027676.2:n.5299G>A