Canonical Allele Identifier: CA10592821

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 433712
• ClinVar RCV Id: RCV000501000 ; RCV001037456 ; RCV002329188
• dbSNP Id: rs1555582714
• MyVariant Identifiers: chr17:g.41228629C>T (hg19) ; chr17:g.43076612C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076612C>T , CM000679.2:g.43076612C>T	GRCh38
NC_000017.10:g.41228629C>T , CM000679.1:g.41228629C>T	GRCh37
NC_000017.9:g.38482155C>T	NCBI36
NG_005905.2:g.141372G>A , LRG_292:g.141372G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4358-1G>A	ENSP00000417241.2:n.4358-1G>A
ENST00000470026.6:c.4360G>A	ENSP00000419274.2:p.Val1454Ile
ENST00000473961.6:c.4234G>A	ENSP00000420201.2:p.Val1412Ile
ENST00000476777.6:c.4354G>A	ENSP00000417554.2:p.Val1452Ile
ENST00000477152.6:c.4282G>A	ENSP00000419988.2:p.Val1428Ile
ENST00000478531.6:c.1048G>A	ENSP00000420412.2:p.Val350Ile
ENST00000489037.2:c.4282G>A	ENSP00000420781.2:p.Val1428Ile
ENST00000493919.6:c.910G>A	ENSP00000418819.2:p.Val304Ile
ENST00000494123.6:c.4360G>A	ENSP00000419103.2:p.Val1454Ile
ENST00000497488.2:c.3472G>A	ENSP00000418986.2:p.Val1158Ile
ENST00000618469.2:c.4360G>A	ENSP00000478114.2:p.Val1454Ile
ENST00000634433.2:c.4237G>A	ENSP00000489431.2:p.Val1413Ile
ENST00000644379.2:c.4426G>A	ENSP00000496570.2:p.Val1476Ile
ENST00000644555.2:c.910G>A	ENSP00000494614.2:p.Val304Ile
ENST00000652672.2:c.4219G>A	ENSP00000498906.2:p.Val1407Ile
ENST00000484087.6:c.923-1G>A	ENSP00000419481.2:n.923-1G>A
ENST00000700182.1:c.968-1G>A	ENSP00000514849.1:n.968-1G>A
ENST00000357654.9:c.4360G>A MANE Select	ENSP00000350283.3:p.Val1454Ile
ENST00000471181.7:c.4424-1G>A	ENSP00000418960.2:n.4424-1G>A
ENST00000644379.1:c.747G>A
ENST00000352993.7:c.934G>A	ENSP00000312236.5:p.Val312Ile
ENST00000357654.7:c.4360G>A	ENSP00000350283.3:p.Val1454Ile
ENST00000461221.5:c.*4143G>A	ENSP00000418548.1:n.*4143G>A
ENST00000461574.1:c.652-1G>A
ENST00000468300.5:c.1049-1G>A	ENSP00000417148.1:n.1049-1G>A
ENST00000471181.6:c.4424-1G>A	ENSP00000418960.2:n.4424-1G>A
ENST00000478531.5:c.1048G>A	ENSP00000420412.1:p.Val350Ile
ENST00000484087.5:c.673G>A	ENSP00000419481.1:p.Val225Ile
ENST00000487825.5:c.676G>A	ENSP00000418212.1:p.Val226Ile
ENST00000491747.6:c.1049-1G>A	ENSP00000420705.2:n.1049-1G>A
ENST00000493795.5:c.4219G>A	ENSP00000418775.1:p.Val1407Ile
ENST00000493919.5:c.910G>A	ENSP00000418819.1:p.Val304Ile
ENST00000586385.5:c.5-12661G>A	ENSP00000465818.1:n.5-12661G>A
ENST00000591534.5:c.-43-2091G>A	ENSP00000467329.1:n.-43-2091G>A
ENST00000591849.5:c.-98-26422G>A	ENSP00000465347.1:n.-98-26422G>A
ENST00000621897.1:n.252-1G>A
NM_007294.3:c.4360G>A , LRG_292t1:c.4360G>A	NP_009225.1:p.Val1454Ile
NM_007297.3:c.4219G>A	NP_009228.2:p.Val1407Ile
NM_007298.3:c.1049-1G>A	NP_009229.2:n.1049-1G>A
NM_007299.3:c.1049-1G>A	NP_009230.2:n.1049-1G>A
NM_007300.3:c.4424-1G>A	NP_009231.2:n.4424-1G>A
NR_027676.1:n.4496G>A
NM_007294.4:c.4360G>A MANE Select	NP_009225.1:p.Val1454Ile
NM_007297.4:c.4219G>A	NP_009228.2:p.Val1407Ile
NM_007299.4:c.1049-1G>A	NP_009230.2:n.1049-1G>A
NM_007300.4:c.4424-1G>A	NP_009231.2:n.4424-1G>A
NR_027676.2:n.4537G>A