Canonical Allele Identifier: CA10580478

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045683A>C , CM000679.2:g.43045683A>C	GRCh38
NC_000017.10:g.41197700A>C , CM000679.1:g.41197700A>C	GRCh37
NC_000017.9:g.38451226A>C	NCBI36
NG_005905.2:g.172301T>G , LRG_292:g.172301T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.5587T>G MANE Select	NP_009225.1:p.Tyr1863Asp
ENST00000357654.9:c.5587T>G MANE Select	ENSP00000350283.3:p.Tyr1863Asp
NM_007294.3:c.5587T>G , LRG_292t1:c.5587T>G	NP_009225.1:p.Tyr1863Asp
NM_007297.3:c.5446T>G	NP_009228.2:p.Tyr1816Asp
NM_007297.4:c.5446T>G	NP_009228.2:p.Tyr1816Asp
NM_007298.3:c.2275T>G	NP_009229.2:p.Tyr759Asp
NM_007299.3:c.*101T>G	NP_009230.2:n.*101T>G
NM_007299.4:c.*101T>G	NP_009230.2:n.*101T>G
NM_007300.3:c.5650T>G	NP_009231.2:p.Tyr1884Asp
NM_007300.4:c.5650T>G	NP_009231.2:p.Tyr1884Asp
NR_027676.1:n.5723T>G
NR_027676.2:n.5764T>G
ENST00000352993.7:c.2161T>G	ENSP00000312236.5:p.Tyr721Asp
ENST00000357654.7:c.5587T>G	ENSP00000350283.3:p.Tyr1863Asp
ENST00000461221.5:c.*5370T>G	ENSP00000418548.1:n.*5370T>G
ENST00000461574.2:c.5584T>G	ENSP00000417241.2:p.Tyr1862Asp
ENST00000468300.5:c.*101T>G	ENSP00000417148.1:n.*101T>G
ENST00000470026.6:c.5587T>G	ENSP00000419274.2:p.Tyr1863Asp
ENST00000471181.6:c.5650T>G	ENSP00000418960.2:p.Tyr1884Asp
ENST00000471181.7:c.5650T>G	ENSP00000418960.2:p.Tyr1884Asp
ENST00000473961.6:c.5461T>G	ENSP00000420201.2:p.Tyr1821Asp
ENST00000476777.6:c.5581T>G	ENSP00000417554.2:p.Tyr1861Asp
ENST00000477152.6:c.5509T>G	ENSP00000419988.2:p.Tyr1837Asp
ENST00000478531.6:c.2275T>G	ENSP00000420412.2:p.Tyr759Asp
ENST00000484087.6:c.2149T>G	ENSP00000419481.2:p.Tyr717Asp
ENST00000489037.2:c.5509T>G	ENSP00000420781.2:p.Tyr1837Asp
ENST00000491747.6:c.2275T>G	ENSP00000420705.2:p.Tyr759Asp
ENST00000493795.5:c.5446T>G	ENSP00000418775.1:p.Tyr1816Asp
ENST00000493919.6:c.2137T>G	ENSP00000418819.2:p.Tyr713Asp
ENST00000494123.6:c.5587T>G	ENSP00000419103.2:p.Tyr1863Asp
ENST00000497488.2:c.4699T>G	ENSP00000418986.2:p.Tyr1567Asp
ENST00000586385.5:c.517T>G	ENSP00000465818.1:p.Tyr173Asp
ENST00000591534.5:c.1060T>G	ENSP00000467329.1:p.Tyr354Asp
ENST00000591849.5:c.286T>G	ENSP00000465347.1:p.Tyr96Asp
ENST00000618469.2:c.5587T>G	ENSP00000478114.2:p.Tyr1863Asp
ENST00000634433.2:c.5464T>G	ENSP00000489431.2:p.Tyr1822Asp
ENST00000644379.1:c.1974T>G
ENST00000644379.2:c.5653T>G	ENSP00000496570.2:p.Tyr1885Asp
ENST00000644555.2:c.2137T>G	ENSP00000494614.2:p.Tyr713Asp
ENST00000652672.2:c.5446T>G	ENSP00000498906.2:p.Tyr1816Asp
ENST00000700081.1:n.1470T>G
ENST00000700082.1:n.951T>G