Canonical Allele Identifier: CA10592470

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 441381
• ClinVar RCV Id: RCV000510029 ; RCV003645019
• dbSNP Id: rs1555582023
• MyVariant Identifiers: chr17:g.41226497T>C (hg19) ; chr17:g.43074480T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074480T>C , CM000679.2:g.43074480T>C	GRCh38
NC_000017.10:g.41226497T>C , CM000679.1:g.41226497T>C	GRCh37
NC_000017.9:g.38480023T>C	NCBI36
NG_005905.2:g.143504A>G , LRG_292:g.143504A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4523A>G	ENSP00000417241.2:p.Tyr1508Cys
ENST00000470026.6:c.4526A>G	ENSP00000419274.2:p.Tyr1509Cys
ENST00000473961.6:c.4400A>G	ENSP00000420201.2:p.Tyr1467Cys
ENST00000476777.6:c.4520A>G	ENSP00000417554.2:p.Tyr1507Cys
ENST00000477152.6:c.4448A>G	ENSP00000419988.2:p.Tyr1483Cys
ENST00000478531.6:c.1214A>G	ENSP00000420412.2:p.Tyr405Cys
ENST00000489037.2:c.4448A>G	ENSP00000420781.2:p.Tyr1483Cys
ENST00000493919.6:c.1076A>G	ENSP00000418819.2:p.Tyr359Cys
ENST00000494123.6:c.4526A>G	ENSP00000419103.2:p.Tyr1509Cys
ENST00000497488.2:c.3638A>G	ENSP00000418986.2:p.Tyr1213Cys
ENST00000618469.2:c.4526A>G	ENSP00000478114.2:p.Tyr1509Cys
ENST00000634433.2:c.4403A>G	ENSP00000489431.2:p.Tyr1468Cys
ENST00000644379.2:c.4592A>G	ENSP00000496570.2:p.Tyr1531Cys
ENST00000644555.2:c.1076A>G	ENSP00000494614.2:p.Tyr359Cys
ENST00000652672.2:c.4385A>G	ENSP00000498906.2:p.Tyr1462Cys
ENST00000484087.6:c.1088A>G	ENSP00000419481.2:p.Tyr363Cys
ENST00000700182.1:c.1133A>G	ENSP00000514849.1:p.Tyr378Cys
ENST00000357654.9:c.4526A>G MANE Select	ENSP00000350283.3:p.Tyr1509Cys
ENST00000471181.7:c.4589A>G	ENSP00000418960.2:p.Tyr1530Cys
ENST00000644379.1:c.913A>G
ENST00000352993.7:c.1100A>G	ENSP00000312236.5:p.Tyr367Cys
ENST00000357654.7:c.4526A>G	ENSP00000350283.3:p.Tyr1509Cys
ENST00000461221.5:c.*4309A>G	ENSP00000418548.1:n.*4309A>G
ENST00000468300.5:c.1214A>G	ENSP00000417148.1:p.Tyr405Cys
ENST00000471181.6:c.4589A>G	ENSP00000418960.2:p.Tyr1530Cys
ENST00000478531.5:c.1214A>G	ENSP00000420412.1:p.Tyr405Cys
ENST00000484087.5:c.839A>G	ENSP00000419481.1:p.Tyr280Cys
ENST00000491747.6:c.1214A>G	ENSP00000420705.2:p.Tyr405Cys
ENST00000493795.5:c.4385A>G	ENSP00000418775.1:p.Tyr1462Cys
ENST00000493919.5:c.1076A>G	ENSP00000418819.1:p.Tyr359Cys
ENST00000586385.5:c.5-10529A>G	ENSP00000465818.1:n.5-10529A>G
ENST00000591534.5:c.-2A>G	ENSP00000467329.1:n.-2A>G
ENST00000591849.5:c.-98-24290A>G	ENSP00000465347.1:n.-98-24290A>G
NM_007294.3:c.4526A>G , LRG_292t1:c.4526A>G	NP_009225.1:p.Tyr1509Cys
NM_007297.3:c.4385A>G	NP_009228.2:p.Tyr1462Cys
NM_007298.3:c.1214A>G	NP_009229.2:p.Tyr405Cys
NM_007299.3:c.1214A>G	NP_009230.2:p.Tyr405Cys
NM_007300.3:c.4589A>G	NP_009231.2:p.Tyr1530Cys
NR_027676.1:n.4662A>G
NM_007294.4:c.4526A>G MANE Select	NP_009225.1:p.Tyr1509Cys
NM_007297.4:c.4385A>G	NP_009228.2:p.Tyr1462Cys
NM_007299.4:c.1214A>G	NP_009230.2:p.Tyr405Cys
NM_007300.4:c.4589A>G	NP_009231.2:p.Tyr1530Cys
NR_027676.2:n.4703A>G