Canonical Allele Identifier: CA10591051

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43057081T>A , CM000679.2:g.43057081T>A	GRCh38
NC_000017.10:g.41209098T>A , CM000679.1:g.41209098T>A	GRCh37
NC_000017.9:g.38462624T>A	NCBI36
NG_005905.2:g.160903A>T , LRG_292:g.160903A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.5248A>T MANE Select	NP_009225.1:p.Lys1750Ter
ENST00000357654.9:c.5248A>T MANE Select	ENSP00000350283.3:p.Lys1750Ter
NM_007294.3:c.5248A>T , LRG_292t1:c.5248A>T	NP_009225.1:p.Lys1750Ter
NM_007297.3:c.5107A>T	NP_009228.2:p.Lys1703Ter
NM_007297.4:c.5107A>T	NP_009228.2:p.Lys1703Ter
NM_007298.3:c.1936A>T	NP_009229.2:p.Lys646Ter
NM_007299.3:c.1936A>T	NP_009230.2:p.Lys646Ter
NM_007299.4:c.1936A>T	NP_009230.2:p.Lys646Ter
NM_007300.3:c.5311A>T	NP_009231.2:p.Lys1771Ter
NM_007300.4:c.5311A>T	NP_009231.2:p.Lys1771Ter
NR_027676.1:n.5384A>T
NR_027676.2:n.5425A>T
ENST00000352993.7:c.1822A>T	ENSP00000312236.5:p.Lys608Ter
ENST00000357654.7:c.5248A>T	ENSP00000350283.3:p.Lys1750Ter
ENST00000461221.5:c.*5031A>T	ENSP00000418548.1:n.*5031A>T
ENST00000461574.2:c.5245A>T	ENSP00000417241.2:p.Lys1749Ter
ENST00000468300.5:c.1936A>T	ENSP00000417148.1:p.Lys646Ter
ENST00000470026.6:c.5248A>T	ENSP00000419274.2:p.Lys1750Ter
ENST00000471181.6:c.5311A>T	ENSP00000418960.2:p.Lys1771Ter
ENST00000471181.7:c.5311A>T	ENSP00000418960.2:p.Lys1771Ter
ENST00000473961.6:c.5122A>T	ENSP00000420201.2:p.Lys1708Ter
ENST00000476777.6:c.5242A>T	ENSP00000417554.2:p.Lys1748Ter
ENST00000477152.6:c.5170A>T	ENSP00000419988.2:p.Lys1724Ter
ENST00000478531.6:c.1936A>T	ENSP00000420412.2:p.Lys646Ter
ENST00000484087.6:c.1810A>T	ENSP00000419481.2:p.Lys604Ter
ENST00000489037.2:c.5170A>T	ENSP00000420781.2:p.Lys1724Ter
ENST00000491747.6:c.1936A>T	ENSP00000420705.2:p.Lys646Ter
ENST00000493795.5:c.5107A>T	ENSP00000418775.1:p.Lys1703Ter
ENST00000493919.6:c.1798A>T	ENSP00000418819.2:p.Lys600Ter
ENST00000494123.6:c.5248A>T	ENSP00000419103.2:p.Lys1750Ter
ENST00000497488.2:c.4360A>T	ENSP00000418986.2:p.Lys1454Ter
ENST00000586385.5:c.178A>T	ENSP00000465818.1:p.Lys60Ter
ENST00000591534.5:c.721A>T	ENSP00000467329.1:p.Lys241Ter
ENST00000591849.5:c.-98-6891A>T	ENSP00000465347.1:n.-98-6891A>T
ENST00000618469.2:c.5248A>T	ENSP00000478114.2:p.Lys1750Ter
ENST00000634433.2:c.5125A>T	ENSP00000489431.2:p.Lys1709Ter
ENST00000644379.1:c.1635A>T
ENST00000644379.2:c.5314A>T	ENSP00000496570.2:p.Lys1772Ter
ENST00000644555.2:c.1798A>T	ENSP00000494614.2:p.Lys600Ter
ENST00000652672.2:c.5107A>T	ENSP00000498906.2:p.Lys1703Ter