Canonical Allele Identifier: CA10593310

Gene: BRCA1

Linked Data

• dbSNP Id: rs80356882
• MyVariant Identifiers: chr17:g.41234573T>A (hg19) ; chr17:g.43082556T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4205A>T	ENSP00000417241.2:p.His1402Leu
ENST00000470026.6:c.4205A>T	ENSP00000419274.2:p.His1402Leu
ENST00000473961.6:c.4079A>T	ENSP00000420201.2:p.His1360Leu
ENST00000476777.6:c.4199A>T	ENSP00000417554.2:p.His1400Leu
ENST00000477152.6:c.4127A>T	ENSP00000419988.2:p.His1376Leu
ENST00000478531.6:c.893A>T	ENSP00000420412.2:p.His298Leu
ENST00000489037.2:c.4127A>T	ENSP00000420781.2:p.His1376Leu
ENST00000493919.6:c.755A>T	ENSP00000418819.2:p.His252Leu
ENST00000494123.6:c.4205A>T	ENSP00000419103.2:p.His1402Leu
ENST00000497488.2:c.3317A>T	ENSP00000418986.2:p.His1106Leu
ENST00000618469.2:c.4205A>T	ENSP00000478114.2:p.His1402Leu
ENST00000634433.2:c.4082A>T	ENSP00000489431.2:p.His1361Leu
ENST00000644379.2:c.4205A>T	ENSP00000496570.2:p.His1402Leu
ENST00000644555.2:c.755A>T	ENSP00000494614.2:p.His252Leu
ENST00000652672.2:c.4064A>T	ENSP00000498906.2:p.His1355Leu
ENST00000484087.6:c.770A>T	ENSP00000419481.2:p.His257Leu
ENST00000700182.1:c.815A>T	ENSP00000514849.1:p.His272Leu
ENST00000357654.9:c.4205A>T MANE Select	ENSP00000350283.3:p.His1402Leu
ENST00000471181.7:c.4205A>T	ENSP00000418960.2:p.His1402Leu
ENST00000644379.1:c.526A>T
ENST00000352993.7:c.779A>T	ENSP00000312236.5:p.His260Leu
ENST00000357654.7:c.4205A>T	ENSP00000350283.3:p.His1402Leu
ENST00000461221.5:c.*3988A>T	ENSP00000418548.1:n.*3988A>T
ENST00000461574.1:c.499A>T
ENST00000468300.5:c.896A>T	ENSP00000417148.1:p.His299Leu
ENST00000471181.6:c.4205A>T	ENSP00000418960.2:p.His1402Leu
ENST00000478531.5:c.893A>T	ENSP00000420412.1:p.His298Leu
ENST00000484087.5:c.518A>T	ENSP00000419481.1:p.His173Leu
ENST00000487825.5:c.521A>T	ENSP00000418212.1:p.His174Leu
ENST00000491747.6:c.896A>T	ENSP00000420705.2:p.His299Leu
ENST00000493795.5:c.4064A>T	ENSP00000418775.1:p.His1355Leu
ENST00000493919.5:c.755A>T	ENSP00000418819.1:p.His252Leu
ENST00000586385.5:c.5-18605A>T	ENSP00000465818.1:n.5-18605A>T
ENST00000591534.5:c.-43-8035A>T	ENSP00000467329.1:n.-43-8035A>T
ENST00000591849.5:c.-98-32366A>T	ENSP00000465347.1:n.-98-32366A>T
ENST00000621897.1:n.99A>T
NM_007294.3:c.4205A>T , LRG_292t1:c.4205A>T	NP_009225.1:p.His1402Leu
NM_007297.3:c.4064A>T	NP_009228.2:p.His1355Leu
NM_007298.3:c.896A>T	NP_009229.2:p.His299Leu
NM_007299.3:c.896A>T	NP_009230.2:p.His299Leu
NM_007300.3:c.4205A>T	NP_009231.2:p.His1402Leu
NR_027676.1:n.4341A>T
NM_007294.4:c.4205A>T MANE Select	NP_009225.1:p.His1402Leu
NM_007297.4:c.4064A>T	NP_009228.2:p.His1355Leu
NM_007299.4:c.896A>T	NP_009230.2:p.His299Leu
NM_007300.4:c.4205A>T	NP_009231.2:p.His1402Leu
NR_027676.2:n.4382A>T