Canonical Allele Identifier: CA10590209

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045713A>T , CM000679.2:g.43045713A>T	GRCh38
NC_000017.10:g.41197730A>T , CM000679.1:g.41197730A>T	GRCh37
NC_000017.9:g.38451256A>T	NCBI36
NG_005905.2:g.172271T>A , LRG_292:g.172271T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.5557T>A MANE Select	NP_009225.1:p.Tyr1853Asn
ENST00000357654.9:c.5557T>A MANE Select	ENSP00000350283.3:p.Tyr1853Asn
NM_007294.3:c.5557T>A , LRG_292t1:c.5557T>A	NP_009225.1:p.Tyr1853Asn
NM_007297.3:c.5416T>A	NP_009228.2:p.Tyr1806Asn
NM_007297.4:c.5416T>A	NP_009228.2:p.Tyr1806Asn
NM_007298.3:c.2245T>A	NP_009229.2:p.Tyr749Asn
NM_007299.3:c.*71T>A	NP_009230.2:n.*71T>A
NM_007299.4:c.*71T>A	NP_009230.2:n.*71T>A
NM_007300.3:c.5620T>A	NP_009231.2:p.Tyr1874Asn
NM_007300.4:c.5620T>A	NP_009231.2:p.Tyr1874Asn
NR_027676.1:n.5693T>A
NR_027676.2:n.5734T>A
ENST00000352993.7:c.2131T>A	ENSP00000312236.5:p.Tyr711Asn
ENST00000357654.7:c.5557T>A	ENSP00000350283.3:p.Tyr1853Asn
ENST00000461221.5:c.*5340T>A	ENSP00000418548.1:n.*5340T>A
ENST00000461574.2:c.5554T>A	ENSP00000417241.2:p.Tyr1852Asn
ENST00000468300.5:c.*71T>A	ENSP00000417148.1:n.*71T>A
ENST00000470026.6:c.5557T>A	ENSP00000419274.2:p.Tyr1853Asn
ENST00000471181.6:c.5620T>A	ENSP00000418960.2:p.Tyr1874Asn
ENST00000471181.7:c.5620T>A	ENSP00000418960.2:p.Tyr1874Asn
ENST00000473961.6:c.5431T>A	ENSP00000420201.2:p.Tyr1811Asn
ENST00000476777.6:c.5551T>A	ENSP00000417554.2:p.Tyr1851Asn
ENST00000477152.6:c.5479T>A	ENSP00000419988.2:p.Tyr1827Asn
ENST00000478531.6:c.2245T>A	ENSP00000420412.2:p.Tyr749Asn
ENST00000484087.6:c.2119T>A	ENSP00000419481.2:p.Tyr707Asn
ENST00000489037.2:c.5479T>A	ENSP00000420781.2:p.Tyr1827Asn
ENST00000491747.6:c.2245T>A	ENSP00000420705.2:p.Tyr749Asn
ENST00000493795.5:c.5416T>A	ENSP00000418775.1:p.Tyr1806Asn
ENST00000493919.6:c.2107T>A	ENSP00000418819.2:p.Tyr703Asn
ENST00000494123.6:c.5557T>A	ENSP00000419103.2:p.Tyr1853Asn
ENST00000497488.2:c.4669T>A	ENSP00000418986.2:p.Tyr1557Asn
ENST00000586385.5:c.487T>A	ENSP00000465818.1:p.Tyr163Asn
ENST00000591534.5:c.1030T>A	ENSP00000467329.1:p.Tyr344Asn
ENST00000591849.5:c.256T>A	ENSP00000465347.1:p.Tyr86Asn
ENST00000618469.2:c.5557T>A	ENSP00000478114.2:p.Tyr1853Asn
ENST00000634433.2:c.5434T>A	ENSP00000489431.2:p.Tyr1812Asn
ENST00000644379.1:c.1944T>A
ENST00000644379.2:c.5623T>A	ENSP00000496570.2:p.Tyr1875Asn
ENST00000644555.2:c.2107T>A	ENSP00000494614.2:p.Tyr703Asn
ENST00000652672.2:c.5416T>A	ENSP00000498906.2:p.Tyr1806Asn
ENST00000700081.1:n.1440T>A
ENST00000700082.1:n.921T>A