Canonical Allele Identifier: CA10590220

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045719C>T , CM000679.2:g.43045719C>T	GRCh38
NC_000017.10:g.41197736C>T , CM000679.1:g.41197736C>T	GRCh37
NC_000017.9:g.38451262C>T	NCBI36
NG_005905.2:g.172265G>A , LRG_292:g.172265G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.5551G>A MANE Select	NP_009225.1:p.Asp1851Asn
ENST00000357654.9:c.5551G>A MANE Select	ENSP00000350283.3:p.Asp1851Asn
NM_007294.3:c.5551G>A , LRG_292t1:c.5551G>A	NP_009225.1:p.Asp1851Asn
NM_007297.3:c.5410G>A	NP_009228.2:p.Asp1804Asn
NM_007297.4:c.5410G>A	NP_009228.2:p.Asp1804Asn
NM_007298.3:c.2239G>A	NP_009229.2:p.Asp747Asn
NM_007299.3:c.*65G>A	NP_009230.2:n.*65G>A
NM_007299.4:c.*65G>A	NP_009230.2:n.*65G>A
NM_007300.3:c.5614G>A	NP_009231.2:p.Asp1872Asn
NM_007300.4:c.5614G>A	NP_009231.2:p.Asp1872Asn
NR_027676.1:n.5687G>A
NR_027676.2:n.5728G>A
ENST00000352993.7:c.2125G>A	ENSP00000312236.5:p.Asp709Asn
ENST00000357654.7:c.5551G>A	ENSP00000350283.3:p.Asp1851Asn
ENST00000461221.5:c.*5334G>A	ENSP00000418548.1:n.*5334G>A
ENST00000461574.2:c.5548G>A	ENSP00000417241.2:p.Asp1850Asn
ENST00000468300.5:c.*65G>A	ENSP00000417148.1:n.*65G>A
ENST00000470026.6:c.5551G>A	ENSP00000419274.2:p.Asp1851Asn
ENST00000471181.6:c.5614G>A	ENSP00000418960.2:p.Asp1872Asn
ENST00000471181.7:c.5614G>A	ENSP00000418960.2:p.Asp1872Asn
ENST00000473961.6:c.5425G>A	ENSP00000420201.2:p.Asp1809Asn
ENST00000476777.6:c.5545G>A	ENSP00000417554.2:p.Asp1849Asn
ENST00000477152.6:c.5473G>A	ENSP00000419988.2:p.Asp1825Asn
ENST00000478531.6:c.2239G>A	ENSP00000420412.2:p.Asp747Asn
ENST00000484087.6:c.2113G>A	ENSP00000419481.2:p.Asp705Asn
ENST00000489037.2:c.5473G>A	ENSP00000420781.2:p.Asp1825Asn
ENST00000491747.6:c.2239G>A	ENSP00000420705.2:p.Asp747Asn
ENST00000493795.5:c.5410G>A	ENSP00000418775.1:p.Asp1804Asn
ENST00000493919.6:c.2101G>A	ENSP00000418819.2:p.Asp701Asn
ENST00000494123.6:c.5551G>A	ENSP00000419103.2:p.Asp1851Asn
ENST00000497488.2:c.4663G>A	ENSP00000418986.2:p.Asp1555Asn
ENST00000586385.5:c.481G>A	ENSP00000465818.1:p.Asp161Asn
ENST00000591534.5:c.1024G>A	ENSP00000467329.1:p.Asp342Asn
ENST00000591849.5:c.250G>A	ENSP00000465347.1:p.Asp84Asn
ENST00000618469.2:c.5551G>A	ENSP00000478114.2:p.Asp1851Asn
ENST00000634433.2:c.5428G>A	ENSP00000489431.2:p.Asp1810Asn
ENST00000644379.1:c.1938G>A
ENST00000644379.2:c.5617G>A	ENSP00000496570.2:p.Asp1873Asn
ENST00000644555.2:c.2101G>A	ENSP00000494614.2:p.Asp701Asn
ENST00000652672.2:c.5410G>A	ENSP00000498906.2:p.Asp1804Asn
ENST00000700081.1:n.1434G>A
ENST00000700082.1:n.915G>A