Canonical Allele Identifier: CA2260762001
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43047671A= , CM000679.2:g.43047671A= GRCh38
NC_000017.10:g.41199688A= , CM000679.1:g.41199688A= GRCh37
NC_000017.9:g.38453214A= NCBI36
NG_005905.2:g.170313T= , LRG_292:g.170313T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.5436T= ENSP00000417241.2:p.Asp1812=
ENST00000470026.6:c.5439T= ENSP00000419274.2:p.Asp1813=
ENST00000473961.6:c.5313T= ENSP00000420201.2:p.Asp1771=
ENST00000476777.6:c.5433T= ENSP00000417554.2:p.Asp1811=
ENST00000477152.6:c.5361T= ENSP00000419988.2:p.Asp1787=
ENST00000478531.6:c.2127T= ENSP00000420412.2:p.Asp709=
ENST00000489037.2:c.5361T= ENSP00000420781.2:p.Asp1787=
ENST00000493919.6:c.1989T= ENSP00000418819.2:p.Asp663=
ENST00000494123.6:c.5439T= ENSP00000419103.2:p.Asp1813=
ENST00000497488.2:c.4551T= ENSP00000418986.2:p.Asp1517=
ENST00000618469.2:c.5439T= ENSP00000478114.2:p.Asp1813=
ENST00000634433.2:c.5316T= ENSP00000489431.2:p.Asp1772=
ENST00000644379.2:c.5505T= ENSP00000496570.2:p.Asp1835=
ENST00000644555.2:c.1989T= ENSP00000494614.2:p.Asp663=
ENST00000652672.2:c.5298T= ENSP00000498906.2:p.Asp1766=
ENST00000484087.6:c.2001T= ENSP00000419481.2:p.Asp667=
ENST00000700081.1:n.1322T=
ENST00000700082.1:n.803T=
ENST00000357654.9:c.5439T= MANE Select ENSP00000350283.3:p.Asp1813=
ENST00000471181.7:c.5502T= ENSP00000418960.2:p.Asp1834=
ENST00000644379.1:c.1826T=
ENST00000352993.7:c.2013T= ENSP00000312236.5:p.Asp671=
ENST00000357654.7:c.5439T= ENSP00000350283.3:p.Asp1813=
ENST00000461221.5:c.*5222T= ENSP00000418548.1:n.*5222T=
ENST00000468300.5:c.2053T= ENSP00000417148.1:p.Cys685=
ENST00000471181.6:c.5502T= ENSP00000418960.2:p.Asp1834=
ENST00000491747.6:c.2127T= ENSP00000420705.2:p.Asp709=
ENST00000493795.5:c.5298T= ENSP00000418775.1:p.Asp1766=
ENST00000586385.5:c.369T= ENSP00000465818.1:p.Asp123=
ENST00000591534.5:c.912T= ENSP00000467329.1:p.Asp304=
ENST00000591849.5:c.138T= ENSP00000465347.1:p.Asp46=
NM_007294.3:c.5439T= , LRG_292t1:c.5439T= NP_009225.1:p.Asp1813=
NM_007297.3:c.5298T= NP_009228.2:p.Asp1766=
NM_007298.3:c.2127T= NP_009229.2:p.Asp709=
NM_007299.3:c.2053T= NP_009230.2:p.Cys685=
NM_007300.3:c.5502T= NP_009231.2:p.Asp1834=
NR_027676.1:n.5575T=
NM_007294.4:c.5439T= MANE Select NP_009225.1:p.Asp1813=
NM_007297.4:c.5298T= NP_009228.2:p.Asp1766=
NM_007299.4:c.2053T= NP_009230.2:p.Cys685=
NM_007300.4:c.5502T= NP_009231.2:p.Asp1834=
NR_027676.2:n.5616T=