Canonical Allele Identifier: CA10589658

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 266481
• ClinVar RCV Id: RCV000256534
• dbSNP Id: rs886040234
• MyVariant Identifiers: chr17:g.41226457G>C (hg19) ; chr17:g.43074440G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074440G>C , CM000679.2:g.43074440G>C	GRCh38
NC_000017.10:g.41226457G>C , CM000679.1:g.41226457G>C	GRCh37
NC_000017.9:g.38479983G>C	NCBI36
NG_005905.2:g.143544C>G , LRG_292:g.143544C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4563C>G	ENSP00000417241.2:p.Tyr1521Ter
ENST00000470026.6:c.4566C>G	ENSP00000419274.2:p.Tyr1522Ter
ENST00000473961.6:c.4440C>G	ENSP00000420201.2:p.Tyr1480Ter
ENST00000476777.6:c.4560C>G	ENSP00000417554.2:p.Tyr1520Ter
ENST00000477152.6:c.4488C>G	ENSP00000419988.2:p.Tyr1496Ter
ENST00000478531.6:c.1254C>G	ENSP00000420412.2:p.Tyr418Ter
ENST00000489037.2:c.4488C>G	ENSP00000420781.2:p.Tyr1496Ter
ENST00000493919.6:c.1116C>G	ENSP00000418819.2:p.Tyr372Ter
ENST00000494123.6:c.4566C>G	ENSP00000419103.2:p.Tyr1522Ter
ENST00000497488.2:c.3678C>G	ENSP00000418986.2:p.Tyr1226Ter
ENST00000618469.2:c.4566C>G	ENSP00000478114.2:p.Tyr1522Ter
ENST00000634433.2:c.4443C>G	ENSP00000489431.2:p.Tyr1481Ter
ENST00000644379.2:c.4632C>G	ENSP00000496570.2:p.Tyr1544Ter
ENST00000644555.2:c.1116C>G	ENSP00000494614.2:p.Tyr372Ter
ENST00000652672.2:c.4425C>G	ENSP00000498906.2:p.Tyr1475Ter
ENST00000484087.6:c.1128C>G	ENSP00000419481.2:p.Tyr376Ter
ENST00000700182.1:c.1173C>G	ENSP00000514849.1:p.Tyr391Ter
ENST00000357654.9:c.4566C>G MANE Select	ENSP00000350283.3:p.Tyr1522Ter
ENST00000471181.7:c.4629C>G	ENSP00000418960.2:p.Tyr1543Ter
ENST00000644379.1:c.953C>G
ENST00000352993.7:c.1140C>G	ENSP00000312236.5:p.Tyr380Ter
ENST00000357654.7:c.4566C>G	ENSP00000350283.3:p.Tyr1522Ter
ENST00000461221.5:c.*4349C>G	ENSP00000418548.1:n.*4349C>G
ENST00000468300.5:c.1254C>G	ENSP00000417148.1:p.Tyr418Ter
ENST00000471181.6:c.4629C>G	ENSP00000418960.2:p.Tyr1543Ter
ENST00000478531.5:c.1254C>G	ENSP00000420412.1:p.Tyr418Ter
ENST00000484087.5:c.879C>G	ENSP00000419481.1:p.Tyr293Ter
ENST00000491747.6:c.1254C>G	ENSP00000420705.2:p.Tyr418Ter
ENST00000493795.5:c.4425C>G	ENSP00000418775.1:p.Tyr1475Ter
ENST00000493919.5:c.1116C>G	ENSP00000418819.1:p.Tyr372Ter
ENST00000586385.5:c.5-10489C>G	ENSP00000465818.1:n.5-10489C>G
ENST00000591534.5:c.39C>G	ENSP00000467329.1:p.Tyr13Ter
ENST00000591849.5:c.-98-24250C>G	ENSP00000465347.1:n.-98-24250C>G
NM_007294.3:c.4566C>G , LRG_292t1:c.4566C>G	NP_009225.1:p.Tyr1522Ter
NM_007297.3:c.4425C>G	NP_009228.2:p.Tyr1475Ter
NM_007298.3:c.1254C>G	NP_009229.2:p.Tyr418Ter
NM_007299.3:c.1254C>G	NP_009230.2:p.Tyr418Ter
NM_007300.3:c.4629C>G	NP_009231.2:p.Tyr1543Ter
NR_027676.1:n.4702C>G
NM_007294.4:c.4566C>G MANE Select	NP_009225.1:p.Tyr1522Ter
NM_007297.4:c.4425C>G	NP_009228.2:p.Tyr1475Ter
NM_007299.4:c.1254C>G	NP_009230.2:p.Tyr418Ter
NM_007300.4:c.4629C>G	NP_009231.2:p.Tyr1543Ter
NR_027676.2:n.4743C>G