Canonical Allele Identifier: CA003710

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55624
• ClinVar RCV Id: RCV000112701 ; RCV001024267
• dbSNP Id: rs80357326
• MyVariant Identifiers: chr17:g.41197734G>T (hg19) ; chr17:g.43045717G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045717G>T , CM000679.2:g.43045717G>T	GRCh38
NC_000017.10:g.41197734G>T , CM000679.1:g.41197734G>T	GRCh37
NC_000017.9:g.38451260G>T	NCBI36
NG_005905.2:g.172267C>A , LRG_292:g.172267C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5550C>A	ENSP00000417241.2:p.Asp1850Glu
ENST00000470026.6:c.5553C>A	ENSP00000419274.2:p.Asp1851Glu
ENST00000473961.6:c.5427C>A	ENSP00000420201.2:p.Asp1809Glu
ENST00000476777.6:c.5547C>A	ENSP00000417554.2:p.Asp1849Glu
ENST00000477152.6:c.5475C>A	ENSP00000419988.2:p.Asp1825Glu
ENST00000478531.6:c.2241C>A	ENSP00000420412.2:p.Asp747Glu
ENST00000489037.2:c.5475C>A	ENSP00000420781.2:p.Asp1825Glu
ENST00000493919.6:c.2103C>A	ENSP00000418819.2:p.Asp701Glu
ENST00000494123.6:c.5553C>A	ENSP00000419103.2:p.Asp1851Glu
ENST00000497488.2:c.4665C>A	ENSP00000418986.2:p.Asp1555Glu
ENST00000618469.2:c.5553C>A	ENSP00000478114.2:p.Asp1851Glu
ENST00000634433.2:c.5430C>A	ENSP00000489431.2:p.Asp1810Glu
ENST00000644379.2:c.5619C>A	ENSP00000496570.2:p.Asp1873Glu
ENST00000644555.2:c.2103C>A	ENSP00000494614.2:p.Asp701Glu
ENST00000652672.2:c.5412C>A	ENSP00000498906.2:p.Asp1804Glu
ENST00000484087.6:c.2115C>A	ENSP00000419481.2:p.Asp705Glu
ENST00000700081.1:n.1436C>A
ENST00000700082.1:n.917C>A
ENST00000357654.9:c.5553C>A MANE Select	ENSP00000350283.3:p.Asp1851Glu
ENST00000471181.7:c.5616C>A	ENSP00000418960.2:p.Asp1872Glu
ENST00000644379.1:c.1940C>A
ENST00000352993.7:c.2127C>A	ENSP00000312236.5:p.Asp709Glu
ENST00000357654.7:c.5553C>A	ENSP00000350283.3:p.Asp1851Glu
ENST00000461221.5:c.*5336C>A	ENSP00000418548.1:n.*5336C>A
ENST00000468300.5:c.*67C>A	ENSP00000417148.1:n.*67C>A
ENST00000471181.6:c.5616C>A	ENSP00000418960.2:p.Asp1872Glu
ENST00000491747.6:c.2241C>A	ENSP00000420705.2:p.Asp747Glu
ENST00000493795.5:c.5412C>A	ENSP00000418775.1:p.Asp1804Glu
ENST00000586385.5:c.483C>A	ENSP00000465818.1:p.Asp161Glu
ENST00000591534.5:c.1026C>A	ENSP00000467329.1:p.Asp342Glu
ENST00000591849.5:c.252C>A	ENSP00000465347.1:p.Asp84Glu
NM_007294.3:c.5553C>A , LRG_292t1:c.5553C>A	NP_009225.1:p.Asp1851Glu
NM_007297.3:c.5412C>A	NP_009228.2:p.Asp1804Glu
NM_007298.3:c.2241C>A	NP_009229.2:p.Asp747Glu
NM_007299.3:c.*67C>A	NP_009230.2:n.*67C>A
NM_007300.3:c.5616C>A	NP_009231.2:p.Asp1872Glu
NR_027676.1:n.5689C>A
NM_007294.4:c.5553C>A MANE Select	NP_009225.1:p.Asp1851Glu
NM_007297.4:c.5412C>A	NP_009228.2:p.Asp1804Glu
NM_007299.4:c.*67C>A	NP_009230.2:n.*67C>A
NM_007300.4:c.5616C>A	NP_009231.2:p.Asp1872Glu
NR_027676.2:n.5730C>A