Canonical Allele Identifier: CA10593368

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43090952T>A , CM000679.2:g.43090952T>A	GRCh38
NC_000017.10:g.41242969T>A , CM000679.1:g.41242969T>A	GRCh37
NC_000017.9:g.38496495T>A	NCBI36
NG_005905.2:g.127032A>T , LRG_292:g.127032A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4177A>T	ENSP00000417241.2:p.Thr1393Ser
ENST00000470026.6:c.4177A>T	ENSP00000419274.2:p.Thr1393Ser
ENST00000473961.6:c.4051A>T	ENSP00000420201.2:p.Thr1351Ser
ENST00000476777.6:c.4174A>T	ENSP00000417554.2:p.Thr1392Ser
ENST00000477152.6:c.4099A>T	ENSP00000419988.2:p.Thr1367Ser
ENST00000478531.6:c.865A>T	ENSP00000420412.2:p.Thr289Ser
ENST00000489037.2:c.4099A>T	ENSP00000420781.2:p.Thr1367Ser
ENST00000493919.6:c.727A>T	ENSP00000418819.2:p.Thr243Ser
ENST00000494123.6:c.4177A>T	ENSP00000419103.2:p.Thr1393Ser
ENST00000497488.2:c.3289A>T	ENSP00000418986.2:p.Thr1097Ser
ENST00000618469.2:c.4177A>T	ENSP00000478114.2:p.Thr1393Ser
ENST00000634433.2:c.4054A>T	ENSP00000489431.2:p.Thr1352Ser
ENST00000644379.2:c.4177A>T	ENSP00000496570.2:p.Thr1393Ser
ENST00000644555.2:c.727A>T	ENSP00000494614.2:p.Thr243Ser
ENST00000652672.2:c.4036A>T	ENSP00000498906.2:p.Thr1346Ser
ENST00000484087.6:c.745A>T	ENSP00000419481.2:p.Thr249Ser
ENST00000700182.1:c.787A>T	ENSP00000514849.1:p.Thr263Ser
ENST00000357654.9:c.4177A>T MANE Select	ENSP00000350283.3:p.Thr1393Ser
ENST00000471181.7:c.4177A>T	ENSP00000418960.2:p.Thr1393Ser
ENST00000644379.1:c.498A>T
ENST00000352993.7:c.751A>T	ENSP00000312236.5:p.Thr251Ser
ENST00000357654.7:c.4177A>T	ENSP00000350283.3:p.Thr1393Ser
ENST00000461221.5:c.*3960A>T	ENSP00000418548.1:n.*3960A>T
ENST00000461574.1:c.471A>T
ENST00000468300.5:c.868A>T	ENSP00000417148.1:p.Thr290Ser
ENST00000471181.6:c.4177A>T	ENSP00000418960.2:p.Thr1393Ser
ENST00000478531.5:c.865A>T	ENSP00000420412.1:p.Thr289Ser
ENST00000484087.5:c.490A>T	ENSP00000419481.1:p.Thr164Ser
ENST00000487825.5:c.493A>T	ENSP00000418212.1:p.Thr165Ser
ENST00000491747.6:c.868A>T	ENSP00000420705.2:p.Thr290Ser
ENST00000493795.5:c.4036A>T	ENSP00000418775.1:p.Thr1346Ser
ENST00000493919.5:c.727A>T	ENSP00000418819.1:p.Thr243Ser
ENST00000586385.5:c.5-27001A>T	ENSP00000465818.1:n.5-27001A>T
ENST00000591534.5:c.-43-16431A>T	ENSP00000467329.1:n.-43-16431A>T
ENST00000591849.5:c.-99+34319A>T	ENSP00000465347.1:n.-99+34319A>T
NM_007294.3:c.4177A>T , LRG_292t1:c.4177A>T	NP_009225.1:p.Thr1393Ser
NM_007297.3:c.4036A>T	NP_009228.2:p.Thr1346Ser
NM_007298.3:c.868A>T	NP_009229.2:p.Thr290Ser
NM_007299.3:c.868A>T	NP_009230.2:p.Thr290Ser
NM_007300.3:c.4177A>T	NP_009231.2:p.Thr1393Ser
NR_027676.1:n.4313A>T
NM_007294.4:c.4177A>T MANE Select	NP_009225.1:p.Thr1393Ser
NM_007297.4:c.4036A>T	NP_009228.2:p.Thr1346Ser
NM_007299.4:c.868A>T	NP_009230.2:p.Thr290Ser
NM_007300.4:c.4177A>T	NP_009231.2:p.Thr1393Ser
NR_027676.2:n.4354A>T