Canonical Allele Identifier: CA10590573

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047679G>T , CM000679.2:g.43047679G>T	GRCh38
NC_000017.10:g.41199696G>T , CM000679.1:g.41199696G>T	GRCh37
NC_000017.9:g.38453222G>T	NCBI36
NG_005905.2:g.170305C>A , LRG_292:g.170305C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.5431C>A MANE Select	NP_009225.1:p.Gln1811Lys
ENST00000357654.9:c.5431C>A MANE Select	ENSP00000350283.3:p.Gln1811Lys
NM_007294.3:c.5431C>A , LRG_292t1:c.5431C>A	NP_009225.1:p.Gln1811Lys
NM_007297.3:c.5290C>A	NP_009228.2:p.Gln1764Lys
NM_007297.4:c.5290C>A	NP_009228.2:p.Gln1764Lys
NM_007298.3:c.2119C>A	NP_009229.2:p.Gln707Lys
NM_007299.3:c.2045C>A	NP_009230.2:p.Ala682Glu
NM_007299.4:c.2045C>A	NP_009230.2:p.Ala682Glu
NM_007300.3:c.5494C>A	NP_009231.2:p.Gln1832Lys
NM_007300.4:c.5494C>A	NP_009231.2:p.Gln1832Lys
NR_027676.1:n.5567C>A
NR_027676.2:n.5608C>A
ENST00000352993.7:c.2005C>A	ENSP00000312236.5:p.Gln669Lys
ENST00000357654.7:c.5431C>A	ENSP00000350283.3:p.Gln1811Lys
ENST00000461221.5:c.*5214C>A	ENSP00000418548.1:n.*5214C>A
ENST00000461574.2:c.5428C>A	ENSP00000417241.2:p.Gln1810Lys
ENST00000468300.5:c.2045C>A	ENSP00000417148.1:p.Ala682Glu
ENST00000470026.6:c.5431C>A	ENSP00000419274.2:p.Gln1811Lys
ENST00000471181.6:c.5494C>A	ENSP00000418960.2:p.Gln1832Lys
ENST00000471181.7:c.5494C>A	ENSP00000418960.2:p.Gln1832Lys
ENST00000473961.6:c.5305C>A	ENSP00000420201.2:p.Gln1769Lys
ENST00000476777.6:c.5425C>A	ENSP00000417554.2:p.Gln1809Lys
ENST00000477152.6:c.5353C>A	ENSP00000419988.2:p.Gln1785Lys
ENST00000478531.6:c.2119C>A	ENSP00000420412.2:p.Gln707Lys
ENST00000484087.6:c.1993C>A	ENSP00000419481.2:p.Gln665Lys
ENST00000489037.2:c.5353C>A	ENSP00000420781.2:p.Gln1785Lys
ENST00000491747.6:c.2119C>A	ENSP00000420705.2:p.Gln707Lys
ENST00000493795.5:c.5290C>A	ENSP00000418775.1:p.Gln1764Lys
ENST00000493919.6:c.1981C>A	ENSP00000418819.2:p.Gln661Lys
ENST00000494123.6:c.5431C>A	ENSP00000419103.2:p.Gln1811Lys
ENST00000497488.2:c.4543C>A	ENSP00000418986.2:p.Gln1515Lys
ENST00000586385.5:c.361C>A	ENSP00000465818.1:p.Gln121Lys
ENST00000591534.5:c.904C>A	ENSP00000467329.1:p.Gln302Lys
ENST00000591849.5:c.130C>A	ENSP00000465347.1:p.Gln44Lys
ENST00000618469.2:c.5431C>A	ENSP00000478114.2:p.Gln1811Lys
ENST00000634433.2:c.5308C>A	ENSP00000489431.2:p.Gln1770Lys
ENST00000644379.1:c.1818C>A
ENST00000644379.2:c.5497C>A	ENSP00000496570.2:p.Gln1833Lys
ENST00000644555.2:c.1981C>A	ENSP00000494614.2:p.Gln661Lys
ENST00000652672.2:c.5290C>A	ENSP00000498906.2:p.Gln1764Lys
ENST00000700081.1:n.1314C>A
ENST00000700082.1:n.795C>A