Canonical Allele Identifier: CA10592763

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1416615
• ClinVar RCV Id: RCV001921284
• dbSNP Id: rs1163509151
• gnomAD v2: 17-41228602-A-G
• gnomAD v4: 17-43076585-A-G
• MyVariant Identifiers: chr17:g.41228602A>G (hg19) ; chr17:g.43076585A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076585A>G , CM000679.2:g.43076585A>G	GRCh38
NC_000017.10:g.41228602A>G , CM000679.1:g.41228602A>G	GRCh37
NC_000017.9:g.38482128A>G	NCBI36
NG_005905.2:g.141399T>C , LRG_292:g.141399T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4384T>C	ENSP00000417241.2:p.Tyr1462His
ENST00000470026.6:c.4387T>C	ENSP00000419274.2:p.Tyr1463His
ENST00000473961.6:c.4261T>C	ENSP00000420201.2:p.Tyr1421His
ENST00000476777.6:c.4381T>C	ENSP00000417554.2:p.Tyr1461His
ENST00000477152.6:c.4309T>C	ENSP00000419988.2:p.Tyr1437His
ENST00000478531.6:c.1075T>C	ENSP00000420412.2:p.Tyr359His
ENST00000489037.2:c.4309T>C	ENSP00000420781.2:p.Tyr1437His
ENST00000493919.6:c.937T>C	ENSP00000418819.2:p.Tyr313His
ENST00000494123.6:c.4387T>C	ENSP00000419103.2:p.Tyr1463His
ENST00000497488.2:c.3499T>C	ENSP00000418986.2:p.Tyr1167His
ENST00000618469.2:c.4387T>C	ENSP00000478114.2:p.Tyr1463His
ENST00000634433.2:c.4264T>C	ENSP00000489431.2:p.Tyr1422His
ENST00000644379.2:c.4453T>C	ENSP00000496570.2:p.Tyr1485His
ENST00000644555.2:c.937T>C	ENSP00000494614.2:p.Tyr313His
ENST00000652672.2:c.4246T>C	ENSP00000498906.2:p.Tyr1416His
ENST00000484087.6:c.949T>C	ENSP00000419481.2:p.Tyr317His
ENST00000700182.1:c.994T>C	ENSP00000514849.1:p.Tyr332His
ENST00000357654.9:c.4387T>C MANE Select	ENSP00000350283.3:p.Tyr1463His
ENST00000471181.7:c.4450T>C	ENSP00000418960.2:p.Tyr1484His
ENST00000644379.1:c.774T>C
ENST00000352993.7:c.961T>C	ENSP00000312236.5:p.Tyr321His
ENST00000357654.7:c.4387T>C	ENSP00000350283.3:p.Tyr1463His
ENST00000461221.5:c.*4170T>C	ENSP00000418548.1:n.*4170T>C
ENST00000461574.1:c.678T>C
ENST00000468300.5:c.1075T>C	ENSP00000417148.1:p.Tyr359His
ENST00000471181.6:c.4450T>C	ENSP00000418960.2:p.Tyr1484His
ENST00000478531.5:c.1075T>C	ENSP00000420412.1:p.Tyr359His
ENST00000484087.5:c.700T>C	ENSP00000419481.1:p.Tyr234His
ENST00000487825.5:c.703T>C	ENSP00000418212.1:p.Tyr235His
ENST00000491747.6:c.1075T>C	ENSP00000420705.2:p.Tyr359His
ENST00000493795.5:c.4246T>C	ENSP00000418775.1:p.Tyr1416His
ENST00000493919.5:c.937T>C	ENSP00000418819.1:p.Tyr313His
ENST00000586385.5:c.5-12634T>C	ENSP00000465818.1:n.5-12634T>C
ENST00000591534.5:c.-43-2064T>C	ENSP00000467329.1:n.-43-2064T>C
ENST00000591849.5:c.-98-26395T>C	ENSP00000465347.1:n.-98-26395T>C
ENST00000621897.1:n.278T>C
NM_007294.3:c.4387T>C , LRG_292t1:c.4387T>C	NP_009225.1:p.Tyr1463His
NM_007297.3:c.4246T>C	NP_009228.2:p.Tyr1416His
NM_007298.3:c.1075T>C	NP_009229.2:p.Tyr359His
NM_007299.3:c.1075T>C	NP_009230.2:p.Tyr359His
NM_007300.3:c.4450T>C	NP_009231.2:p.Tyr1484His
NR_027676.1:n.4523T>C
NM_007294.4:c.4387T>C MANE Select	NP_009225.1:p.Tyr1463His
NM_007297.4:c.4246T>C	NP_009228.2:p.Tyr1416His
NM_007299.4:c.1075T>C	NP_009230.2:p.Tyr359His
NM_007300.4:c.4450T>C	NP_009231.2:p.Tyr1484His
NR_027676.2:n.4564T>C