Canonical Allele Identifier: CA500142928

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 427255
• ClinVar RCV Id: RCV000495345 ; RCV003766753
• dbSNP Id: rs1131692070
• MyVariant Identifiers: chr17:g.41197791C>T (hg19) ; chr17:g.43045774C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045774C>T , CM000679.2:g.43045774C>T	GRCh38
NC_000017.10:g.41197791C>T , CM000679.1:g.41197791C>T	GRCh37
NC_000017.9:g.38451317C>T	NCBI36
NG_005905.2:g.172210G>A , LRG_292:g.172210G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5493G>A	ENSP00000417241.2:p.Val1831=
ENST00000470026.6:c.5496G>A	ENSP00000419274.2:p.Val1832=
ENST00000473961.6:c.5370G>A	ENSP00000420201.2:p.Val1790=
ENST00000476777.6:c.5490G>A	ENSP00000417554.2:p.Val1830=
ENST00000477152.6:c.5418G>A	ENSP00000419988.2:p.Val1806=
ENST00000478531.6:c.2184G>A	ENSP00000420412.2:p.Val728=
ENST00000489037.2:c.5418G>A	ENSP00000420781.2:p.Val1806=
ENST00000493919.6:c.2046G>A	ENSP00000418819.2:p.Val682=
ENST00000494123.6:c.5496G>A	ENSP00000419103.2:p.Val1832=
ENST00000497488.2:c.4608G>A	ENSP00000418986.2:p.Val1536=
ENST00000618469.2:c.5496G>A	ENSP00000478114.2:p.Val1832=
ENST00000634433.2:c.5373G>A	ENSP00000489431.2:p.Val1791=
ENST00000644379.2:c.5562G>A	ENSP00000496570.2:p.Val1854=
ENST00000644555.2:c.2046G>A	ENSP00000494614.2:p.Val682=
ENST00000652672.2:c.5355G>A	ENSP00000498906.2:p.Val1785=
ENST00000484087.6:c.2058G>A	ENSP00000419481.2:p.Val686=
ENST00000700081.1:n.1379G>A
ENST00000700082.1:n.860G>A
ENST00000357654.9:c.5496G>A MANE Select	ENSP00000350283.3:p.Val1832=
ENST00000471181.7:c.5559G>A	ENSP00000418960.2:p.Val1853=
ENST00000644379.1:c.1883G>A
ENST00000352993.7:c.2070G>A	ENSP00000312236.5:p.Val690=
ENST00000357654.7:c.5496G>A	ENSP00000350283.3:p.Val1832=
ENST00000461221.5:c.*5279G>A	ENSP00000418548.1:n.*5279G>A
ENST00000468300.5:c.*10G>A	ENSP00000417148.1:n.*10G>A
ENST00000471181.6:c.5559G>A	ENSP00000418960.2:p.Val1853=
ENST00000491747.6:c.2184G>A	ENSP00000420705.2:p.Val728=
ENST00000493795.5:c.5355G>A	ENSP00000418775.1:p.Val1785=
ENST00000586385.5:c.426G>A	ENSP00000465818.1:p.Val142=
ENST00000591534.5:c.969G>A	ENSP00000467329.1:p.Val323=
ENST00000591849.5:c.195G>A	ENSP00000465347.1:p.Val65=
NM_007294.3:c.5496G>A , LRG_292t1:c.5496G>A	NP_009225.1:p.Val1832=
NM_007297.3:c.5355G>A	NP_009228.2:p.Val1785=
NM_007298.3:c.2184G>A	NP_009229.2:p.Val728=
NM_007299.3:c.*10G>A	NP_009230.2:n.*10G>A
NM_007300.3:c.5559G>A	NP_009231.2:p.Val1853=
NR_027676.1:n.5632G>A
NM_007294.4:c.5496G>A MANE Select	NP_009225.1:p.Val1832=
NM_007297.4:c.5355G>A	NP_009228.2:p.Val1785=
NM_007299.4:c.*10G>A	NP_009230.2:n.*10G>A
NM_007300.4:c.5559G>A	NP_009231.2:p.Val1853=
NR_027676.2:n.5673G>A