Canonical Allele Identifier: CA10580499

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 232915
• ClinVar RCV Id: RCV000218067 ; RCV000796831 ; RCV000989872 ; RCV002470823
• dbSNP Id: rs876660071
• MyVariant Identifiers: chr17:g.41215935T>C (hg19) ; chr17:g.43063918T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063918T>C , CM000679.2:g.43063918T>C	GRCh38
NC_000017.10:g.41215935T>C , CM000679.1:g.41215935T>C	GRCh37
NC_000017.9:g.38469461T>C	NCBI36
NG_005905.2:g.154066A>G , LRG_292:g.154066A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5105A>G	ENSP00000417241.2:p.Tyr1702Cys
ENST00000470026.6:c.5108A>G	ENSP00000419274.2:p.Tyr1703Cys
ENST00000473961.6:c.4982A>G	ENSP00000420201.2:p.Tyr1661Cys
ENST00000476777.6:c.5102A>G	ENSP00000417554.2:p.Tyr1701Cys
ENST00000477152.6:c.5030A>G	ENSP00000419988.2:p.Tyr1677Cys
ENST00000478531.6:c.1796A>G	ENSP00000420412.2:p.Tyr599Cys
ENST00000489037.2:c.5030A>G	ENSP00000420781.2:p.Tyr1677Cys
ENST00000493919.6:c.1658A>G	ENSP00000418819.2:p.Tyr553Cys
ENST00000494123.6:c.5108A>G	ENSP00000419103.2:p.Tyr1703Cys
ENST00000497488.2:c.4220A>G	ENSP00000418986.2:p.Tyr1407Cys
ENST00000618469.2:c.5108A>G	ENSP00000478114.2:p.Tyr1703Cys
ENST00000634433.2:c.4985A>G	ENSP00000489431.2:p.Tyr1662Cys
ENST00000644379.2:c.5174A>G	ENSP00000496570.2:p.Tyr1725Cys
ENST00000644555.2:c.1658A>G	ENSP00000494614.2:p.Tyr553Cys
ENST00000652672.2:c.4967A>G	ENSP00000498906.2:p.Tyr1656Cys
ENST00000484087.6:c.1670A>G	ENSP00000419481.2:p.Tyr557Cys
ENST00000357654.9:c.5108A>G MANE Select	ENSP00000350283.3:p.Tyr1703Cys
ENST00000471181.7:c.5171A>G	ENSP00000418960.2:p.Tyr1724Cys
ENST00000644379.1:c.1495A>G
ENST00000352993.7:c.1682A>G	ENSP00000312236.5:p.Tyr561Cys
ENST00000357654.7:c.5108A>G	ENSP00000350283.3:p.Tyr1703Cys
ENST00000461221.5:c.*4891A>G	ENSP00000418548.1:n.*4891A>G
ENST00000468300.5:c.1796A>G	ENSP00000417148.1:p.Tyr599Cys
ENST00000471181.6:c.5171A>G	ENSP00000418960.2:p.Tyr1724Cys
ENST00000478531.5:c.1796A>G	ENSP00000420412.1:p.Tyr599Cys
ENST00000484087.5:c.1421A>G	ENSP00000419481.1:p.Tyr474Cys
ENST00000491747.6:c.1796A>G	ENSP00000420705.2:p.Tyr599Cys
ENST00000493795.5:c.4967A>G	ENSP00000418775.1:p.Tyr1656Cys
ENST00000493919.5:c.1658A>G	ENSP00000418819.1:p.Tyr553Cys
ENST00000586385.5:c.38A>G	ENSP00000465818.1:p.Tyr13Cys
ENST00000591534.5:c.581A>G	ENSP00000467329.1:p.Tyr194Cys
ENST00000591849.5:c.-98-13728A>G	ENSP00000465347.1:n.-98-13728A>G
NM_007294.3:c.5108A>G , LRG_292t1:c.5108A>G	NP_009225.1:p.Tyr1703Cys
NM_007297.3:c.4967A>G	NP_009228.2:p.Tyr1656Cys
NM_007298.3:c.1796A>G	NP_009229.2:p.Tyr599Cys
NM_007299.3:c.1796A>G	NP_009230.2:p.Tyr599Cys
NM_007300.3:c.5171A>G	NP_009231.2:p.Tyr1724Cys
NR_027676.1:n.5244A>G
NM_007294.4:c.5108A>G MANE Select	NP_009225.1:p.Tyr1703Cys
NM_007297.4:c.4967A>G	NP_009228.2:p.Tyr1656Cys
NM_007299.4:c.1796A>G	NP_009230.2:p.Tyr599Cys
NM_007300.4:c.5171A>G	NP_009231.2:p.Tyr1724Cys
NR_027676.2:n.5285A>G