Canonical Allele Identifier: CA10593315

Gene: BRCA1

Linked Data

• dbSNP Id: rs2154161357
• MyVariant Identifiers: chr17:g.41234576T>A (hg19) ; chr17:g.43082559T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082559T>A , CM000679.2:g.43082559T>A	GRCh38
NC_000017.10:g.41234576T>A , CM000679.1:g.41234576T>A	GRCh37
NC_000017.9:g.38488102T>A	NCBI36
NG_005905.2:g.135425A>T , LRG_292:g.135425A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4202A>T	ENSP00000417241.2:p.Gln1401Leu
ENST00000470026.6:c.4202A>T	ENSP00000419274.2:p.Gln1401Leu
ENST00000473961.6:c.4076A>T	ENSP00000420201.2:p.Gln1359Leu
ENST00000476777.6:c.4196A>T	ENSP00000417554.2:p.Gln1399Leu
ENST00000477152.6:c.4124A>T	ENSP00000419988.2:p.Gln1375Leu
ENST00000478531.6:c.890A>T	ENSP00000420412.2:p.Gln297Leu
ENST00000489037.2:c.4124A>T	ENSP00000420781.2:p.Gln1375Leu
ENST00000493919.6:c.752A>T	ENSP00000418819.2:p.Gln251Leu
ENST00000494123.6:c.4202A>T	ENSP00000419103.2:p.Gln1401Leu
ENST00000497488.2:c.3314A>T	ENSP00000418986.2:p.Gln1105Leu
ENST00000618469.2:c.4202A>T	ENSP00000478114.2:p.Gln1401Leu
ENST00000634433.2:c.4079A>T	ENSP00000489431.2:p.Gln1360Leu
ENST00000644379.2:c.4202A>T	ENSP00000496570.2:p.Gln1401Leu
ENST00000644555.2:c.752A>T	ENSP00000494614.2:p.Gln251Leu
ENST00000652672.2:c.4061A>T	ENSP00000498906.2:p.Gln1354Leu
ENST00000484087.6:c.767A>T	ENSP00000419481.2:p.Gln256Leu
ENST00000700182.1:c.812A>T	ENSP00000514849.1:p.Gln271Leu
ENST00000357654.9:c.4202A>T MANE Select	ENSP00000350283.3:p.Gln1401Leu
ENST00000471181.7:c.4202A>T	ENSP00000418960.2:p.Gln1401Leu
ENST00000644379.1:c.523A>T
ENST00000352993.7:c.776A>T	ENSP00000312236.5:p.Gln259Leu
ENST00000357654.7:c.4202A>T	ENSP00000350283.3:p.Gln1401Leu
ENST00000461221.5:c.*3985A>T	ENSP00000418548.1:n.*3985A>T
ENST00000461574.1:c.496A>T
ENST00000468300.5:c.893A>T	ENSP00000417148.1:p.Gln298Leu
ENST00000471181.6:c.4202A>T	ENSP00000418960.2:p.Gln1401Leu
ENST00000478531.5:c.890A>T	ENSP00000420412.1:p.Gln297Leu
ENST00000484087.5:c.515A>T	ENSP00000419481.1:p.Gln172Leu
ENST00000487825.5:c.518A>T	ENSP00000418212.1:p.Gln173Leu
ENST00000491747.6:c.893A>T	ENSP00000420705.2:p.Gln298Leu
ENST00000493795.5:c.4061A>T	ENSP00000418775.1:p.Gln1354Leu
ENST00000493919.5:c.752A>T	ENSP00000418819.1:p.Gln251Leu
ENST00000586385.5:c.5-18608A>T	ENSP00000465818.1:n.5-18608A>T
ENST00000591534.5:c.-43-8038A>T	ENSP00000467329.1:n.-43-8038A>T
ENST00000591849.5:c.-98-32369A>T	ENSP00000465347.1:n.-98-32369A>T
ENST00000621897.1:n.96A>T
NM_007294.3:c.4202A>T , LRG_292t1:c.4202A>T	NP_009225.1:p.Gln1401Leu
NM_007297.3:c.4061A>T	NP_009228.2:p.Gln1354Leu
NM_007298.3:c.893A>T	NP_009229.2:p.Gln298Leu
NM_007299.3:c.893A>T	NP_009230.2:p.Gln298Leu
NM_007300.3:c.4202A>T	NP_009231.2:p.Gln1401Leu
NR_027676.1:n.4338A>T
NM_007294.4:c.4202A>T MANE Select	NP_009225.1:p.Gln1401Leu
NM_007297.4:c.4061A>T	NP_009228.2:p.Gln1354Leu
NM_007299.4:c.893A>T	NP_009230.2:p.Gln298Leu
NM_007300.4:c.4202A>T	NP_009231.2:p.Gln1401Leu
NR_027676.2:n.4379A>T