Canonical Allele Identifier: CA10592644

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 2992774
• ClinVar RCV Id: RCV003857885
• dbSNP Id: rs1555582586
• MyVariant Identifiers: chr17:g.41228543A>T (hg19) ; chr17:g.43076526A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076526A>T , CM000679.2:g.43076526A>T	GRCh38
NC_000017.10:g.41228543A>T , CM000679.1:g.41228543A>T	GRCh37
NC_000017.9:g.38482069A>T	NCBI36
NG_005905.2:g.141458T>A , LRG_292:g.141458T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4443T>A	ENSP00000417241.2:p.Asp1481Glu
ENST00000470026.6:c.4446T>A	ENSP00000419274.2:p.Asp1482Glu
ENST00000473961.6:c.4320T>A	ENSP00000420201.2:p.Asp1440Glu
ENST00000476777.6:c.4440T>A	ENSP00000417554.2:p.Asp1480Glu
ENST00000477152.6:c.4368T>A	ENSP00000419988.2:p.Asp1456Glu
ENST00000478531.6:c.1134T>A	ENSP00000420412.2:p.Asp378Glu
ENST00000489037.2:c.4368T>A	ENSP00000420781.2:p.Asp1456Glu
ENST00000493919.6:c.996T>A	ENSP00000418819.2:p.Asp332Glu
ENST00000494123.6:c.4446T>A	ENSP00000419103.2:p.Asp1482Glu
ENST00000497488.2:c.3558T>A	ENSP00000418986.2:p.Asp1186Glu
ENST00000618469.2:c.4446T>A	ENSP00000478114.2:p.Asp1482Glu
ENST00000634433.2:c.4323T>A	ENSP00000489431.2:p.Asp1441Glu
ENST00000644379.2:c.4512T>A	ENSP00000496570.2:p.Asp1504Glu
ENST00000644555.2:c.996T>A	ENSP00000494614.2:p.Asp332Glu
ENST00000652672.2:c.4305T>A	ENSP00000498906.2:p.Asp1435Glu
ENST00000484087.6:c.1008T>A	ENSP00000419481.2:p.Asp336Glu
ENST00000700182.1:c.1053T>A	ENSP00000514849.1:p.Asp351Glu
ENST00000357654.9:c.4446T>A MANE Select	ENSP00000350283.3:p.Asp1482Glu
ENST00000471181.7:c.4509T>A	ENSP00000418960.2:p.Asp1503Glu
ENST00000644379.1:c.833T>A
ENST00000352993.7:c.1020T>A	ENSP00000312236.5:p.Asp340Glu
ENST00000357654.7:c.4446T>A	ENSP00000350283.3:p.Asp1482Glu
ENST00000461221.5:c.*4229T>A	ENSP00000418548.1:n.*4229T>A
ENST00000468300.5:c.1134T>A	ENSP00000417148.1:p.Asp378Glu
ENST00000471181.6:c.4509T>A	ENSP00000418960.2:p.Asp1503Glu
ENST00000478531.5:c.1134T>A	ENSP00000420412.1:p.Asp378Glu
ENST00000484087.5:c.759T>A	ENSP00000419481.1:p.Asp253Glu
ENST00000487825.5:c.762T>A	ENSP00000418212.1:p.Asp254Glu
ENST00000491747.6:c.1134T>A	ENSP00000420705.2:p.Asp378Glu
ENST00000493795.5:c.4305T>A	ENSP00000418775.1:p.Asp1435Glu
ENST00000493919.5:c.996T>A	ENSP00000418819.1:p.Asp332Glu
ENST00000586385.5:c.5-12575T>A	ENSP00000465818.1:n.5-12575T>A
ENST00000591534.5:c.-43-2005T>A	ENSP00000467329.1:n.-43-2005T>A
ENST00000591849.5:c.-98-26336T>A	ENSP00000465347.1:n.-98-26336T>A
ENST00000621897.1:n.337T>A
NM_007294.3:c.4446T>A , LRG_292t1:c.4446T>A	NP_009225.1:p.Asp1482Glu
NM_007297.3:c.4305T>A	NP_009228.2:p.Asp1435Glu
NM_007298.3:c.1134T>A	NP_009229.2:p.Asp378Glu
NM_007299.3:c.1134T>A	NP_009230.2:p.Asp378Glu
NM_007300.3:c.4509T>A	NP_009231.2:p.Asp1503Glu
NR_027676.1:n.4582T>A
NM_007294.4:c.4446T>A MANE Select	NP_009225.1:p.Asp1482Glu
NM_007297.4:c.4305T>A	NP_009228.2:p.Asp1435Glu
NM_007299.4:c.1134T>A	NP_009230.2:p.Asp378Glu
NM_007300.4:c.4509T>A	NP_009231.2:p.Asp1503Glu
NR_027676.2:n.4623T>A