Canonical Allele Identifier: CA10590540

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 867393
• ClinVar RCV Id: RCV001076072
• dbSNP Id: rs760396669
• MyVariant Identifiers: chr17:g.41199688A>C (hg19) ; chr17:g.43047671A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047671A>C , CM000679.2:g.43047671A>C	GRCh38
NC_000017.10:g.41199688A>C , CM000679.1:g.41199688A>C	GRCh37
NC_000017.9:g.38453214A>C	NCBI36
NG_005905.2:g.170313T>G , LRG_292:g.170313T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5436T>G	ENSP00000417241.2:p.Asp1812Glu
ENST00000470026.6:c.5439T>G	ENSP00000419274.2:p.Asp1813Glu
ENST00000473961.6:c.5313T>G	ENSP00000420201.2:p.Asp1771Glu
ENST00000476777.6:c.5433T>G	ENSP00000417554.2:p.Asp1811Glu
ENST00000477152.6:c.5361T>G	ENSP00000419988.2:p.Asp1787Glu
ENST00000478531.6:c.2127T>G	ENSP00000420412.2:p.Asp709Glu
ENST00000489037.2:c.5361T>G	ENSP00000420781.2:p.Asp1787Glu
ENST00000493919.6:c.1989T>G	ENSP00000418819.2:p.Asp663Glu
ENST00000494123.6:c.5439T>G	ENSP00000419103.2:p.Asp1813Glu
ENST00000497488.2:c.4551T>G	ENSP00000418986.2:p.Asp1517Glu
ENST00000618469.2:c.5439T>G	ENSP00000478114.2:p.Asp1813Glu
ENST00000634433.2:c.5316T>G	ENSP00000489431.2:p.Asp1772Glu
ENST00000644379.2:c.5505T>G	ENSP00000496570.2:p.Asp1835Glu
ENST00000644555.2:c.1989T>G	ENSP00000494614.2:p.Asp663Glu
ENST00000652672.2:c.5298T>G	ENSP00000498906.2:p.Asp1766Glu
ENST00000484087.6:c.2001T>G	ENSP00000419481.2:p.Asp667Glu
ENST00000700081.1:n.1322T>G
ENST00000700082.1:n.803T>G
ENST00000357654.9:c.5439T>G MANE Select	ENSP00000350283.3:p.Asp1813Glu
ENST00000471181.7:c.5502T>G	ENSP00000418960.2:p.Asp1834Glu
ENST00000644379.1:c.1826T>G
ENST00000352993.7:c.2013T>G	ENSP00000312236.5:p.Asp671Glu
ENST00000357654.7:c.5439T>G	ENSP00000350283.3:p.Asp1813Glu
ENST00000461221.5:c.*5222T>G	ENSP00000418548.1:n.*5222T>G
ENST00000468300.5:c.2053T>G	ENSP00000417148.1:p.Cys685Gly
ENST00000471181.6:c.5502T>G	ENSP00000418960.2:p.Asp1834Glu
ENST00000491747.6:c.2127T>G	ENSP00000420705.2:p.Asp709Glu
ENST00000493795.5:c.5298T>G	ENSP00000418775.1:p.Asp1766Glu
ENST00000586385.5:c.369T>G	ENSP00000465818.1:p.Asp123Glu
ENST00000591534.5:c.912T>G	ENSP00000467329.1:p.Asp304Glu
ENST00000591849.5:c.138T>G	ENSP00000465347.1:p.Asp46Glu
NM_007294.3:c.5439T>G , LRG_292t1:c.5439T>G	NP_009225.1:p.Asp1813Glu
NM_007297.3:c.5298T>G	NP_009228.2:p.Asp1766Glu
NM_007298.3:c.2127T>G	NP_009229.2:p.Asp709Glu
NM_007299.3:c.2053T>G	NP_009230.2:p.Cys685Gly
NM_007300.3:c.5502T>G	NP_009231.2:p.Asp1834Glu
NR_027676.1:n.5575T>G
NM_007294.4:c.5439T>G MANE Select	NP_009225.1:p.Asp1813Glu
NM_007297.4:c.5298T>G	NP_009228.2:p.Asp1766Glu
NM_007299.4:c.2053T>G	NP_009230.2:p.Cys685Gly
NM_007300.4:c.5502T>G	NP_009231.2:p.Asp1834Glu
NR_027676.2:n.5616T>G