Canonical Allele Identifier: CA10592495

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074490C>T , CM000679.2:g.43074490C>T	GRCh38
NC_000017.10:g.41226507C>T , CM000679.1:g.41226507C>T	GRCh37
NC_000017.9:g.38480033C>T	NCBI36
NG_005905.2:g.143494G>A , LRG_292:g.143494G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.4516G>A MANE Select	NP_009225.1:p.Asp1506Asn
ENST00000357654.9:c.4516G>A MANE Select	ENSP00000350283.3:p.Asp1506Asn
NM_007294.3:c.4516G>A , LRG_292t1:c.4516G>A	NP_009225.1:p.Asp1506Asn
NM_007297.3:c.4375G>A	NP_009228.2:p.Asp1459Asn
NM_007297.4:c.4375G>A	NP_009228.2:p.Asp1459Asn
NM_007298.3:c.1204G>A	NP_009229.2:p.Asp402Asn
NM_007299.3:c.1204G>A	NP_009230.2:p.Asp402Asn
NM_007299.4:c.1204G>A	NP_009230.2:p.Asp402Asn
NM_007300.3:c.4579G>A	NP_009231.2:p.Asp1527Asn
NM_007300.4:c.4579G>A	NP_009231.2:p.Asp1527Asn
NR_027676.1:n.4652G>A
NR_027676.2:n.4693G>A
ENST00000352993.7:c.1090G>A	ENSP00000312236.5:p.Asp364Asn
ENST00000357654.7:c.4516G>A	ENSP00000350283.3:p.Asp1506Asn
ENST00000461221.5:c.*4299G>A	ENSP00000418548.1:n.*4299G>A
ENST00000461574.2:c.4513G>A	ENSP00000417241.2:p.Asp1505Asn
ENST00000468300.5:c.1204G>A	ENSP00000417148.1:p.Asp402Asn
ENST00000470026.6:c.4516G>A	ENSP00000419274.2:p.Asp1506Asn
ENST00000471181.6:c.4579G>A	ENSP00000418960.2:p.Asp1527Asn
ENST00000471181.7:c.4579G>A	ENSP00000418960.2:p.Asp1527Asn
ENST00000473961.6:c.4390G>A	ENSP00000420201.2:p.Asp1464Asn
ENST00000476777.6:c.4510G>A	ENSP00000417554.2:p.Asp1504Asn
ENST00000477152.6:c.4438G>A	ENSP00000419988.2:p.Asp1480Asn
ENST00000478531.5:c.1204G>A	ENSP00000420412.1:p.Asp402Asn
ENST00000478531.6:c.1204G>A	ENSP00000420412.2:p.Asp402Asn
ENST00000484087.5:c.829G>A	ENSP00000419481.1:p.Asp277Asn
ENST00000484087.6:c.1078G>A	ENSP00000419481.2:p.Asp360Asn
ENST00000489037.2:c.4438G>A	ENSP00000420781.2:p.Asp1480Asn
ENST00000491747.6:c.1204G>A	ENSP00000420705.2:p.Asp402Asn
ENST00000493795.5:c.4375G>A	ENSP00000418775.1:p.Asp1459Asn
ENST00000493919.5:c.1066G>A	ENSP00000418819.1:p.Asp356Asn
ENST00000493919.6:c.1066G>A	ENSP00000418819.2:p.Asp356Asn
ENST00000494123.6:c.4516G>A	ENSP00000419103.2:p.Asp1506Asn
ENST00000497488.2:c.3628G>A	ENSP00000418986.2:p.Asp1210Asn
ENST00000586385.5:c.5-10539G>A	ENSP00000465818.1:n.5-10539G>A
ENST00000591534.5:c.-12G>A	ENSP00000467329.1:n.-12G>A
ENST00000591849.5:c.-98-24300G>A	ENSP00000465347.1:n.-98-24300G>A
ENST00000618469.2:c.4516G>A	ENSP00000478114.2:p.Asp1506Asn
ENST00000634433.2:c.4393G>A	ENSP00000489431.2:p.Asp1465Asn
ENST00000644379.1:c.903G>A
ENST00000644379.2:c.4582G>A	ENSP00000496570.2:p.Asp1528Asn
ENST00000644555.2:c.1066G>A	ENSP00000494614.2:p.Asp356Asn
ENST00000652672.2:c.4375G>A	ENSP00000498906.2:p.Asp1459Asn
ENST00000700182.1:c.1123G>A	ENSP00000514849.1:p.Asp375Asn