Canonical Allele Identifier: CA10590934

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 371864
• ClinVar RCV Id: RCV000412196 ; RCV003298419
• dbSNP Id: rs397509258
• MyVariant Identifiers: chr17:g.41203105A>C (hg19) ; chr17:g.43051088A>C (hg38)
• PubMed: PMID:10811118

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43051088A>C , CM000679.2:g.43051088A>C	GRCh38
NC_000017.10:g.41203105A>C , CM000679.1:g.41203105A>C	GRCh37
NC_000017.9:g.38456631A>C	NCBI36
NG_005905.2:g.166896T>G , LRG_292:g.166896T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5304T>G	ENSP00000417241.2:p.Tyr1768Ter
ENST00000470026.6:c.5307T>G	ENSP00000419274.2:p.Tyr1769Ter
ENST00000473961.6:c.5181T>G	ENSP00000420201.2:p.Tyr1727Ter
ENST00000476777.6:c.5301T>G	ENSP00000417554.2:p.Tyr1767Ter
ENST00000477152.6:c.5229T>G	ENSP00000419988.2:p.Tyr1743Ter
ENST00000478531.6:c.1995T>G	ENSP00000420412.2:p.Tyr665Ter
ENST00000489037.2:c.5229T>G	ENSP00000420781.2:p.Tyr1743Ter
ENST00000493919.6:c.1857T>G	ENSP00000418819.2:p.Tyr619Ter
ENST00000494123.6:c.5307T>G	ENSP00000419103.2:p.Tyr1769Ter
ENST00000497488.2:c.4419T>G	ENSP00000418986.2:p.Tyr1473Ter
ENST00000618469.2:c.5307T>G	ENSP00000478114.2:p.Tyr1769Ter
ENST00000634433.2:c.5184T>G	ENSP00000489431.2:p.Tyr1728Ter
ENST00000644379.2:c.5373T>G	ENSP00000496570.2:p.Tyr1791Ter
ENST00000644555.2:c.1857T>G	ENSP00000494614.2:p.Tyr619Ter
ENST00000652672.2:c.5166T>G	ENSP00000498906.2:p.Tyr1722Ter
ENST00000484087.6:c.1869T>G	ENSP00000419481.2:p.Tyr623Ter
ENST00000357654.9:c.5307T>G MANE Select	ENSP00000350283.3:p.Tyr1769Ter
ENST00000471181.7:c.5370T>G	ENSP00000418960.2:p.Tyr1790Ter
ENST00000644379.1:c.1694T>G
ENST00000352993.7:c.1881T>G	ENSP00000312236.5:p.Tyr627Ter
ENST00000357654.7:c.5307T>G	ENSP00000350283.3:p.Tyr1769Ter
ENST00000461221.5:c.*5090T>G	ENSP00000418548.1:n.*5090T>G
ENST00000468300.5:c.1995T>G	ENSP00000417148.1:p.Tyr665Ter
ENST00000471181.6:c.5370T>G	ENSP00000418960.2:p.Tyr1790Ter
ENST00000491747.6:c.1995T>G	ENSP00000420705.2:p.Tyr665Ter
ENST00000493795.5:c.5166T>G	ENSP00000418775.1:p.Tyr1722Ter
ENST00000586385.5:c.237T>G	ENSP00000465818.1:p.Tyr79Ter
ENST00000591534.5:c.780T>G	ENSP00000467329.1:p.Tyr260Ter
ENST00000591849.5:c.-98-898T>G	ENSP00000465347.1:n.-98-898T>G
NM_007294.3:c.5307T>G , LRG_292t1:c.5307T>G	NP_009225.1:p.Tyr1769Ter
NM_007297.3:c.5166T>G	NP_009228.2:p.Tyr1722Ter
NM_007298.3:c.1995T>G	NP_009229.2:p.Tyr665Ter
NM_007299.3:c.1995T>G	NP_009230.2:p.Tyr665Ter
NM_007300.3:c.5370T>G	NP_009231.2:p.Tyr1790Ter
NR_027676.1:n.5443T>G
NM_007294.4:c.5307T>G MANE Select	NP_009225.1:p.Tyr1769Ter
NM_007297.4:c.5166T>G	NP_009228.2:p.Tyr1722Ter
NM_007299.4:c.1995T>G	NP_009230.2:p.Tyr665Ter
NM_007300.4:c.5370T>G	NP_009231.2:p.Tyr1790Ter
NR_027676.2:n.5484T>G