Canonical Allele Identifier: CA10593501

Gene: BRCA1

Linked Data

• dbSNP Id: rs1441376381
• gnomAD v2: 17-41243034-C-A
• MyVariant Identifiers: chr17:g.41243034C>A (hg19) ; chr17:g.43091017C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091017C>A , CM000679.2:g.43091017C>A	GRCh38
NC_000017.10:g.41243034C>A , CM000679.1:g.41243034C>A	GRCh37
NC_000017.9:g.38496560C>A	NCBI36
NG_005905.2:g.126967G>T , LRG_292:g.126967G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4112G>T	ENSP00000417241.2:p.Gly1371Val
ENST00000470026.6:c.4112G>T	ENSP00000419274.2:p.Gly1371Val
ENST00000473961.6:c.3986G>T	ENSP00000420201.2:p.Gly1329Val
ENST00000476777.6:c.4109G>T	ENSP00000417554.2:p.Gly1370Val
ENST00000477152.6:c.4034G>T	ENSP00000419988.2:p.Gly1345Val
ENST00000478531.6:c.800G>T	ENSP00000420412.2:p.Gly267Val
ENST00000489037.2:c.4034G>T	ENSP00000420781.2:p.Gly1345Val
ENST00000493919.6:c.662G>T	ENSP00000418819.2:p.Gly221Val
ENST00000494123.6:c.4112G>T	ENSP00000419103.2:p.Gly1371Val
ENST00000497488.2:c.3224G>T	ENSP00000418986.2:p.Gly1075Val
ENST00000618469.2:c.4112G>T	ENSP00000478114.2:p.Gly1371Val
ENST00000634433.2:c.3989G>T	ENSP00000489431.2:p.Gly1330Val
ENST00000644379.2:c.4112G>T	ENSP00000496570.2:p.Gly1371Val
ENST00000644555.2:c.662G>T	ENSP00000494614.2:p.Gly221Val
ENST00000652672.2:c.3971G>T	ENSP00000498906.2:p.Gly1324Val
ENST00000484087.6:c.680G>T	ENSP00000419481.2:p.Gly227Val
ENST00000700182.1:c.722G>T	ENSP00000514849.1:p.Gly241Val
ENST00000357654.9:c.4112G>T MANE Select	ENSP00000350283.3:p.Gly1371Val
ENST00000471181.7:c.4112G>T	ENSP00000418960.2:p.Gly1371Val
ENST00000644379.1:c.433G>T
ENST00000352993.7:c.686G>T	ENSP00000312236.5:p.Gly229Val
ENST00000357654.7:c.4112G>T	ENSP00000350283.3:p.Gly1371Val
ENST00000461221.5:c.*3895G>T	ENSP00000418548.1:n.*3895G>T
ENST00000461574.1:c.406G>T
ENST00000468300.5:c.803G>T	ENSP00000417148.1:p.Gly268Val
ENST00000471181.6:c.4112G>T	ENSP00000418960.2:p.Gly1371Val
ENST00000478531.5:c.800G>T	ENSP00000420412.1:p.Gly267Val
ENST00000484087.5:c.425G>T	ENSP00000419481.1:p.Gly142Val
ENST00000487825.5:c.428G>T	ENSP00000418212.1:p.Gly143Val
ENST00000491747.6:c.803G>T	ENSP00000420705.2:p.Gly268Val
ENST00000493795.5:c.3971G>T	ENSP00000418775.1:p.Gly1324Val
ENST00000493919.5:c.662G>T	ENSP00000418819.1:p.Gly221Val
ENST00000586385.5:c.5-27066G>T	ENSP00000465818.1:n.5-27066G>T
ENST00000591534.5:c.-43-16496G>T	ENSP00000467329.1:n.-43-16496G>T
ENST00000591849.5:c.-99+34254G>T	ENSP00000465347.1:n.-99+34254G>T
NM_007294.3:c.4112G>T , LRG_292t1:c.4112G>T	NP_009225.1:p.Gly1371Val
NM_007297.3:c.3971G>T	NP_009228.2:p.Gly1324Val
NM_007298.3:c.803G>T	NP_009229.2:p.Gly268Val
NM_007299.3:c.803G>T	NP_009230.2:p.Gly268Val
NM_007300.3:c.4112G>T	NP_009231.2:p.Gly1371Val
NR_027676.1:n.4248G>T
NM_007294.4:c.4112G>T MANE Select	NP_009225.1:p.Gly1371Val
NM_007297.4:c.3971G>T	NP_009228.2:p.Gly1324Val
NM_007299.4:c.803G>T	NP_009230.2:p.Gly268Val
NM_007300.4:c.4112G>T	NP_009231.2:p.Gly1371Val
NR_027676.2:n.4289G>T