Canonical Allele Identifier: CA10583562

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 240800
• ClinVar RCV Id: RCV000226853 ; RCV002257592 ; RCV003998882
• dbSNP Id: rs80356882
• MyVariant Identifiers: chr17:g.41234573T>G (hg19) ; chr17:g.43082556T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082556T>G , CM000679.2:g.43082556T>G	GRCh38
NC_000017.10:g.41234573T>G , CM000679.1:g.41234573T>G	GRCh37
NC_000017.9:g.38488099T>G	NCBI36
NG_005905.2:g.135428A>C , LRG_292:g.135428A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4205A>C	ENSP00000417241.2:p.His1402Pro
ENST00000470026.6:c.4205A>C	ENSP00000419274.2:p.His1402Pro
ENST00000473961.6:c.4079A>C	ENSP00000420201.2:p.His1360Pro
ENST00000476777.6:c.4199A>C	ENSP00000417554.2:p.His1400Pro
ENST00000477152.6:c.4127A>C	ENSP00000419988.2:p.His1376Pro
ENST00000478531.6:c.893A>C	ENSP00000420412.2:p.His298Pro
ENST00000489037.2:c.4127A>C	ENSP00000420781.2:p.His1376Pro
ENST00000493919.6:c.755A>C	ENSP00000418819.2:p.His252Pro
ENST00000494123.6:c.4205A>C	ENSP00000419103.2:p.His1402Pro
ENST00000497488.2:c.3317A>C	ENSP00000418986.2:p.His1106Pro
ENST00000618469.2:c.4205A>C	ENSP00000478114.2:p.His1402Pro
ENST00000634433.2:c.4082A>C	ENSP00000489431.2:p.His1361Pro
ENST00000644379.2:c.4205A>C	ENSP00000496570.2:p.His1402Pro
ENST00000644555.2:c.755A>C	ENSP00000494614.2:p.His252Pro
ENST00000652672.2:c.4064A>C	ENSP00000498906.2:p.His1355Pro
ENST00000484087.6:c.770A>C	ENSP00000419481.2:p.His257Pro
ENST00000700182.1:c.815A>C	ENSP00000514849.1:p.His272Pro
ENST00000357654.9:c.4205A>C MANE Select	ENSP00000350283.3:p.His1402Pro
ENST00000471181.7:c.4205A>C	ENSP00000418960.2:p.His1402Pro
ENST00000644379.1:c.526A>C
ENST00000352993.7:c.779A>C	ENSP00000312236.5:p.His260Pro
ENST00000357654.7:c.4205A>C	ENSP00000350283.3:p.His1402Pro
ENST00000461221.5:c.*3988A>C	ENSP00000418548.1:n.*3988A>C
ENST00000461574.1:c.499A>C
ENST00000468300.5:c.896A>C	ENSP00000417148.1:p.His299Pro
ENST00000471181.6:c.4205A>C	ENSP00000418960.2:p.His1402Pro
ENST00000478531.5:c.893A>C	ENSP00000420412.1:p.His298Pro
ENST00000484087.5:c.518A>C	ENSP00000419481.1:p.His173Pro
ENST00000487825.5:c.521A>C	ENSP00000418212.1:p.His174Pro
ENST00000491747.6:c.896A>C	ENSP00000420705.2:p.His299Pro
ENST00000493795.5:c.4064A>C	ENSP00000418775.1:p.His1355Pro
ENST00000493919.5:c.755A>C	ENSP00000418819.1:p.His252Pro
ENST00000586385.5:c.5-18605A>C	ENSP00000465818.1:n.5-18605A>C
ENST00000591534.5:c.-43-8035A>C	ENSP00000467329.1:n.-43-8035A>C
ENST00000591849.5:c.-98-32366A>C	ENSP00000465347.1:n.-98-32366A>C
ENST00000621897.1:n.99A>C
NM_007294.3:c.4205A>C , LRG_292t1:c.4205A>C	NP_009225.1:p.His1402Pro
NM_007297.3:c.4064A>C	NP_009228.2:p.His1355Pro
NM_007298.3:c.896A>C	NP_009229.2:p.His299Pro
NM_007299.3:c.896A>C	NP_009230.2:p.His299Pro
NM_007300.3:c.4205A>C	NP_009231.2:p.His1402Pro
NR_027676.1:n.4341A>C
NM_007294.4:c.4205A>C MANE Select	NP_009225.1:p.His1402Pro
NM_007297.4:c.4064A>C	NP_009228.2:p.His1355Pro
NM_007299.4:c.896A>C	NP_009230.2:p.His299Pro
NM_007300.4:c.4205A>C	NP_009231.2:p.His1402Pro
NR_027676.2:n.4382A>C