Canonical Allele Identifier: CA10590344

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045786A>T , CM000679.2:g.43045786A>T	GRCh38
NC_000017.10:g.41197803A>T , CM000679.1:g.41197803A>T	GRCh37
NC_000017.9:g.38451329A>T	NCBI36
NG_005905.2:g.172198T>A , LRG_292:g.172198T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.5484T>A MANE Select	NP_009225.1:p.Cys1828Ter
ENST00000357654.9:c.5484T>A MANE Select	ENSP00000350283.3:p.Cys1828Ter
NM_007294.3:c.5484T>A , LRG_292t1:c.5484T>A	NP_009225.1:p.Cys1828Ter
NM_007297.3:c.5343T>A	NP_009228.2:p.Cys1781Ter
NM_007297.4:c.5343T>A	NP_009228.2:p.Cys1781Ter
NM_007298.3:c.2172T>A	NP_009229.2:p.Cys724Ter
NM_007299.3:c.2098T>A	NP_009230.2:p.Ter700Arg
NM_007299.4:c.2098T>A	NP_009230.2:p.Ter700Arg
NM_007300.3:c.5547T>A	NP_009231.2:p.Cys1849Ter
NM_007300.4:c.5547T>A	NP_009231.2:p.Cys1849Ter
NR_027676.1:n.5620T>A
NR_027676.2:n.5661T>A
ENST00000352993.7:c.2058T>A	ENSP00000312236.5:p.Cys686Ter
ENST00000357654.7:c.5484T>A	ENSP00000350283.3:p.Cys1828Ter
ENST00000461221.5:c.*5267T>A	ENSP00000418548.1:n.*5267T>A
ENST00000461574.2:c.5481T>A	ENSP00000417241.2:p.Cys1827Ter
ENST00000468300.5:c.2098T>A	ENSP00000417148.1:p.Ter700Arg
ENST00000470026.6:c.5484T>A	ENSP00000419274.2:p.Cys1828Ter
ENST00000471181.6:c.5547T>A	ENSP00000418960.2:p.Cys1849Ter
ENST00000471181.7:c.5547T>A	ENSP00000418960.2:p.Cys1849Ter
ENST00000473961.6:c.5358T>A	ENSP00000420201.2:p.Cys1786Ter
ENST00000476777.6:c.5478T>A	ENSP00000417554.2:p.Cys1826Ter
ENST00000477152.6:c.5406T>A	ENSP00000419988.2:p.Cys1802Ter
ENST00000478531.6:c.2172T>A	ENSP00000420412.2:p.Cys724Ter
ENST00000484087.6:c.2046T>A	ENSP00000419481.2:p.Cys682Ter
ENST00000489037.2:c.5406T>A	ENSP00000420781.2:p.Cys1802Ter
ENST00000491747.6:c.2172T>A	ENSP00000420705.2:p.Cys724Ter
ENST00000493795.5:c.5343T>A	ENSP00000418775.1:p.Cys1781Ter
ENST00000493919.6:c.2034T>A	ENSP00000418819.2:p.Cys678Ter
ENST00000494123.6:c.5484T>A	ENSP00000419103.2:p.Cys1828Ter
ENST00000497488.2:c.4596T>A	ENSP00000418986.2:p.Cys1532Ter
ENST00000586385.5:c.414T>A	ENSP00000465818.1:p.Cys138Ter
ENST00000591534.5:c.957T>A	ENSP00000467329.1:p.Cys319Ter
ENST00000591849.5:c.183T>A	ENSP00000465347.1:p.Cys61Ter
ENST00000618469.2:c.5484T>A	ENSP00000478114.2:p.Cys1828Ter
ENST00000634433.2:c.5361T>A	ENSP00000489431.2:p.Cys1787Ter
ENST00000644379.1:c.1871T>A
ENST00000644379.2:c.5550T>A	ENSP00000496570.2:p.Cys1850Ter
ENST00000644555.2:c.2034T>A	ENSP00000494614.2:p.Cys678Ter
ENST00000652672.2:c.5343T>A	ENSP00000498906.2:p.Cys1781Ter
ENST00000700081.1:n.1367T>A
ENST00000700082.1:n.848T>A