Canonical Allele Identifier: CA10590208

Gene: BRCA1

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.5557T>C MANE Select	NP_009225.1:p.Tyr1853His
ENST00000357654.9:c.5557T>C MANE Select	ENSP00000350283.3:p.Tyr1853His
NM_007294.3:c.5557T>C , LRG_292t1:c.5557T>C	NP_009225.1:p.Tyr1853His
NM_007297.3:c.5416T>C	NP_009228.2:p.Tyr1806His
NM_007297.4:c.5416T>C	NP_009228.2:p.Tyr1806His
NM_007298.3:c.2245T>C	NP_009229.2:p.Tyr749His
NM_007299.3:c.*71T>C	NP_009230.2:n.*71T>C
NM_007299.4:c.*71T>C	NP_009230.2:n.*71T>C
NM_007300.3:c.5620T>C	NP_009231.2:p.Tyr1874His
NM_007300.4:c.5620T>C	NP_009231.2:p.Tyr1874His
NR_027676.1:n.5693T>C
NR_027676.2:n.5734T>C
ENST00000352993.7:c.2131T>C	ENSP00000312236.5:p.Tyr711His
ENST00000357654.7:c.5557T>C	ENSP00000350283.3:p.Tyr1853His
ENST00000461221.5:c.*5340T>C	ENSP00000418548.1:n.*5340T>C
ENST00000461574.2:c.5554T>C	ENSP00000417241.2:p.Tyr1852His
ENST00000468300.5:c.*71T>C	ENSP00000417148.1:n.*71T>C
ENST00000470026.6:c.5557T>C	ENSP00000419274.2:p.Tyr1853His
ENST00000471181.6:c.5620T>C	ENSP00000418960.2:p.Tyr1874His
ENST00000471181.7:c.5620T>C	ENSP00000418960.2:p.Tyr1874His
ENST00000473961.6:c.5431T>C	ENSP00000420201.2:p.Tyr1811His
ENST00000476777.6:c.5551T>C	ENSP00000417554.2:p.Tyr1851His
ENST00000477152.6:c.5479T>C	ENSP00000419988.2:p.Tyr1827His
ENST00000478531.6:c.2245T>C	ENSP00000420412.2:p.Tyr749His
ENST00000484087.6:c.2119T>C	ENSP00000419481.2:p.Tyr707His
ENST00000489037.2:c.5479T>C	ENSP00000420781.2:p.Tyr1827His
ENST00000491747.6:c.2245T>C	ENSP00000420705.2:p.Tyr749His
ENST00000493795.5:c.5416T>C	ENSP00000418775.1:p.Tyr1806His
ENST00000493919.6:c.2107T>C	ENSP00000418819.2:p.Tyr703His
ENST00000494123.6:c.5557T>C	ENSP00000419103.2:p.Tyr1853His
ENST00000497488.2:c.4669T>C	ENSP00000418986.2:p.Tyr1557His
ENST00000586385.5:c.487T>C	ENSP00000465818.1:p.Tyr163His
ENST00000591534.5:c.1030T>C	ENSP00000467329.1:p.Tyr344His
ENST00000591849.5:c.256T>C	ENSP00000465347.1:p.Tyr86His
ENST00000618469.2:c.5557T>C	ENSP00000478114.2:p.Tyr1853His
ENST00000634433.2:c.5434T>C	ENSP00000489431.2:p.Tyr1812His
ENST00000644379.1:c.1944T>C
ENST00000644379.2:c.5623T>C	ENSP00000496570.2:p.Tyr1875His
ENST00000644555.2:c.2107T>C	ENSP00000494614.2:p.Tyr703His
ENST00000652672.2:c.5416T>C	ENSP00000498906.2:p.Tyr1806His
ENST00000700081.1:n.1440T>C
ENST00000700082.1:n.921T>C