Canonical Allele Identifier: CA10593382

Gene: BRCA1

Linked Data

• MyVariant Identifiers: chr17:g.41242976G>T (hg19) ; chr17:g.43090959G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43090959G>T , CM000679.2:g.43090959G>T	GRCh38
NC_000017.10:g.41242976G>T , CM000679.1:g.41242976G>T	GRCh37
NC_000017.9:g.38496502G>T	NCBI36
NG_005905.2:g.127025C>A , LRG_292:g.127025C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4170C>A	ENSP00000417241.2:p.Asp1390Glu
ENST00000470026.6:c.4170C>A	ENSP00000419274.2:p.Asp1390Glu
ENST00000473961.6:c.4044C>A	ENSP00000420201.2:p.Asp1348Glu
ENST00000476777.6:c.4167C>A	ENSP00000417554.2:p.Asp1389Glu
ENST00000477152.6:c.4092C>A	ENSP00000419988.2:p.Asp1364Glu
ENST00000478531.6:c.858C>A	ENSP00000420412.2:p.Asp286Glu
ENST00000489037.2:c.4092C>A	ENSP00000420781.2:p.Asp1364Glu
ENST00000493919.6:c.720C>A	ENSP00000418819.2:p.Asp240Glu
ENST00000494123.6:c.4170C>A	ENSP00000419103.2:p.Asp1390Glu
ENST00000497488.2:c.3282C>A	ENSP00000418986.2:p.Asp1094Glu
ENST00000618469.2:c.4170C>A	ENSP00000478114.2:p.Asp1390Glu
ENST00000634433.2:c.4047C>A	ENSP00000489431.2:p.Asp1349Glu
ENST00000644379.2:c.4170C>A	ENSP00000496570.2:p.Asp1390Glu
ENST00000644555.2:c.720C>A	ENSP00000494614.2:p.Asp240Glu
ENST00000652672.2:c.4029C>A	ENSP00000498906.2:p.Asp1343Glu
ENST00000484087.6:c.738C>A	ENSP00000419481.2:p.Asp246Glu
ENST00000700182.1:c.780C>A	ENSP00000514849.1:p.Asp260Glu
ENST00000357654.9:c.4170C>A MANE Select	ENSP00000350283.3:p.Asp1390Glu
ENST00000471181.7:c.4170C>A	ENSP00000418960.2:p.Asp1390Glu
ENST00000644379.1:c.491C>A
ENST00000352993.7:c.744C>A	ENSP00000312236.5:p.Asp248Glu
ENST00000357654.7:c.4170C>A	ENSP00000350283.3:p.Asp1390Glu
ENST00000461221.5:c.*3953C>A	ENSP00000418548.1:n.*3953C>A
ENST00000461574.1:c.464C>A
ENST00000468300.5:c.861C>A	ENSP00000417148.1:p.Asp287Glu
ENST00000471181.6:c.4170C>A	ENSP00000418960.2:p.Asp1390Glu
ENST00000478531.5:c.858C>A	ENSP00000420412.1:p.Asp286Glu
ENST00000484087.5:c.483C>A	ENSP00000419481.1:p.Asp161Glu
ENST00000487825.5:c.486C>A	ENSP00000418212.1:p.Asp162Glu
ENST00000491747.6:c.861C>A	ENSP00000420705.2:p.Asp287Glu
ENST00000493795.5:c.4029C>A	ENSP00000418775.1:p.Asp1343Glu
ENST00000493919.5:c.720C>A	ENSP00000418819.1:p.Asp240Glu
ENST00000586385.5:c.5-27008C>A	ENSP00000465818.1:n.5-27008C>A
ENST00000591534.5:c.-43-16438C>A	ENSP00000467329.1:n.-43-16438C>A
ENST00000591849.5:c.-99+34312C>A	ENSP00000465347.1:n.-99+34312C>A
NM_007294.3:c.4170C>A , LRG_292t1:c.4170C>A	NP_009225.1:p.Asp1390Glu
NM_007297.3:c.4029C>A	NP_009228.2:p.Asp1343Glu
NM_007298.3:c.861C>A	NP_009229.2:p.Asp287Glu
NM_007299.3:c.861C>A	NP_009230.2:p.Asp287Glu
NM_007300.3:c.4170C>A	NP_009231.2:p.Asp1390Glu
NR_027676.1:n.4306C>A
NM_007294.4:c.4170C>A MANE Select	NP_009225.1:p.Asp1390Glu
NM_007297.4:c.4029C>A	NP_009228.2:p.Asp1343Glu
NM_007299.4:c.861C>A	NP_009230.2:p.Asp287Glu
NM_007300.4:c.4170C>A	NP_009231.2:p.Asp1390Glu
NR_027676.2:n.4347C>A