Canonical Allele Identifier: CA10593475

Gene: BRCA1

Linked Data

• dbSNP Id: rs2154256106
• MyVariant Identifiers: chr17:g.41243022T>A (hg19) ; chr17:g.43091005T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091005T>A , CM000679.2:g.43091005T>A	GRCh38
NC_000017.10:g.41243022T>A , CM000679.1:g.41243022T>A	GRCh37
NC_000017.9:g.38496548T>A	NCBI36
NG_005905.2:g.126979A>T , LRG_292:g.126979A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4124A>T	ENSP00000417241.2:p.Glu1375Val
ENST00000470026.6:c.4124A>T	ENSP00000419274.2:p.Glu1375Val
ENST00000473961.6:c.3998A>T	ENSP00000420201.2:p.Glu1333Val
ENST00000476777.6:c.4121A>T	ENSP00000417554.2:p.Glu1374Val
ENST00000477152.6:c.4046A>T	ENSP00000419988.2:p.Glu1349Val
ENST00000478531.6:c.812A>T	ENSP00000420412.2:p.Glu271Val
ENST00000489037.2:c.4046A>T	ENSP00000420781.2:p.Glu1349Val
ENST00000493919.6:c.674A>T	ENSP00000418819.2:p.Glu225Val
ENST00000494123.6:c.4124A>T	ENSP00000419103.2:p.Glu1375Val
ENST00000497488.2:c.3236A>T	ENSP00000418986.2:p.Glu1079Val
ENST00000618469.2:c.4124A>T	ENSP00000478114.2:p.Glu1375Val
ENST00000634433.2:c.4001A>T	ENSP00000489431.2:p.Glu1334Val
ENST00000644379.2:c.4124A>T	ENSP00000496570.2:p.Glu1375Val
ENST00000644555.2:c.674A>T	ENSP00000494614.2:p.Glu225Val
ENST00000652672.2:c.3983A>T	ENSP00000498906.2:p.Glu1328Val
ENST00000484087.6:c.692A>T	ENSP00000419481.2:p.Glu231Val
ENST00000700182.1:c.734A>T	ENSP00000514849.1:p.Glu245Val
ENST00000357654.9:c.4124A>T MANE Select	ENSP00000350283.3:p.Glu1375Val
ENST00000471181.7:c.4124A>T	ENSP00000418960.2:p.Glu1375Val
ENST00000644379.1:c.445A>T
ENST00000352993.7:c.698A>T	ENSP00000312236.5:p.Glu233Val
ENST00000357654.7:c.4124A>T	ENSP00000350283.3:p.Glu1375Val
ENST00000461221.5:c.*3907A>T	ENSP00000418548.1:n.*3907A>T
ENST00000461574.1:c.418A>T
ENST00000468300.5:c.815A>T	ENSP00000417148.1:p.Glu272Val
ENST00000471181.6:c.4124A>T	ENSP00000418960.2:p.Glu1375Val
ENST00000478531.5:c.812A>T	ENSP00000420412.1:p.Glu271Val
ENST00000484087.5:c.437A>T	ENSP00000419481.1:p.Glu146Val
ENST00000487825.5:c.440A>T	ENSP00000418212.1:p.Glu147Val
ENST00000491747.6:c.815A>T	ENSP00000420705.2:p.Glu272Val
ENST00000493795.5:c.3983A>T	ENSP00000418775.1:p.Glu1328Val
ENST00000493919.5:c.674A>T	ENSP00000418819.1:p.Glu225Val
ENST00000586385.5:c.5-27054A>T	ENSP00000465818.1:n.5-27054A>T
ENST00000591534.5:c.-43-16484A>T	ENSP00000467329.1:n.-43-16484A>T
ENST00000591849.5:c.-99+34266A>T	ENSP00000465347.1:n.-99+34266A>T
NM_007294.3:c.4124A>T , LRG_292t1:c.4124A>T	NP_009225.1:p.Glu1375Val
NM_007297.3:c.3983A>T	NP_009228.2:p.Glu1328Val
NM_007298.3:c.815A>T	NP_009229.2:p.Glu272Val
NM_007299.3:c.815A>T	NP_009230.2:p.Glu272Val
NM_007300.3:c.4124A>T	NP_009231.2:p.Glu1375Val
NR_027676.1:n.4260A>T
NM_007294.4:c.4124A>T MANE Select	NP_009225.1:p.Glu1375Val
NM_007297.4:c.3983A>T	NP_009228.2:p.Glu1328Val
NM_007299.4:c.815A>T	NP_009230.2:p.Glu272Val
NM_007300.4:c.4124A>T	NP_009231.2:p.Glu1375Val
NR_027676.2:n.4301A>T