Canonical Allele Identifier: CA10590631

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 867380
• ClinVar RCV Id: RCV001076057
• dbSNP Id: rs1060504559
• MyVariant Identifiers: chr17:g.41199712G>T (hg19) ; chr17:g.43047695G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047695G>T , CM000679.2:g.43047695G>T	GRCh38
NC_000017.10:g.41199712G>T , CM000679.1:g.41199712G>T	GRCh37
NC_000017.9:g.38453238G>T	NCBI36
NG_005905.2:g.170289C>A , LRG_292:g.170289C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5412C>A	ENSP00000417241.2:p.His1804Gln
ENST00000470026.6:c.5415C>A	ENSP00000419274.2:p.His1805Gln
ENST00000473961.6:c.5289C>A	ENSP00000420201.2:p.His1763Gln
ENST00000476777.6:c.5409C>A	ENSP00000417554.2:p.His1803Gln
ENST00000477152.6:c.5337C>A	ENSP00000419988.2:p.His1779Gln
ENST00000478531.6:c.2103C>A	ENSP00000420412.2:p.His701Gln
ENST00000489037.2:c.5337C>A	ENSP00000420781.2:p.His1779Gln
ENST00000493919.6:c.1965C>A	ENSP00000418819.2:p.His655Gln
ENST00000494123.6:c.5415C>A	ENSP00000419103.2:p.His1805Gln
ENST00000497488.2:c.4527C>A	ENSP00000418986.2:p.His1509Gln
ENST00000618469.2:c.5415C>A	ENSP00000478114.2:p.His1805Gln
ENST00000634433.2:c.5292C>A	ENSP00000489431.2:p.His1764Gln
ENST00000644379.2:c.5481C>A	ENSP00000496570.2:p.His1827Gln
ENST00000644555.2:c.1965C>A	ENSP00000494614.2:p.His655Gln
ENST00000652672.2:c.5274C>A	ENSP00000498906.2:p.His1758Gln
ENST00000484087.6:c.1977C>A	ENSP00000419481.2:p.His659Gln
ENST00000700081.1:n.1298C>A
ENST00000700082.1:n.779C>A
ENST00000357654.9:c.5415C>A MANE Select	ENSP00000350283.3:p.His1805Gln
ENST00000471181.7:c.5478C>A	ENSP00000418960.2:p.His1826Gln
ENST00000644379.1:c.1802C>A
ENST00000352993.7:c.1989C>A	ENSP00000312236.5:p.His663Gln
ENST00000357654.7:c.5415C>A	ENSP00000350283.3:p.His1805Gln
ENST00000461221.5:c.*5198C>A	ENSP00000418548.1:n.*5198C>A
ENST00000468300.5:c.2029C>A	ENSP00000417148.1:p.Pro677Thr
ENST00000471181.6:c.5478C>A	ENSP00000418960.2:p.His1826Gln
ENST00000491747.6:c.2103C>A	ENSP00000420705.2:p.His701Gln
ENST00000493795.5:c.5274C>A	ENSP00000418775.1:p.His1758Gln
ENST00000586385.5:c.345C>A	ENSP00000465818.1:p.His115Gln
ENST00000591534.5:c.888C>A	ENSP00000467329.1:p.His296Gln
ENST00000591849.5:c.114C>A	ENSP00000465347.1:p.His38Gln
NM_007294.3:c.5415C>A , LRG_292t1:c.5415C>A	NP_009225.1:p.His1805Gln
NM_007297.3:c.5274C>A	NP_009228.2:p.His1758Gln
NM_007298.3:c.2103C>A	NP_009229.2:p.His701Gln
NM_007299.3:c.2029C>A	NP_009230.2:p.Pro677Thr
NM_007300.3:c.5478C>A	NP_009231.2:p.His1826Gln
NR_027676.1:n.5551C>A
NM_007294.4:c.5415C>A MANE Select	NP_009225.1:p.His1805Gln
NM_007297.4:c.5274C>A	NP_009228.2:p.His1758Gln
NM_007299.4:c.2029C>A	NP_009230.2:p.Pro677Thr
NM_007300.4:c.5478C>A	NP_009231.2:p.His1826Gln
NR_027676.2:n.5592C>A