Canonical Allele Identifier: CA10580534

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 233727
• ClinVar RCV Id: RCV000215519 ; RCV000805865 ; RCV000661269 ; RCV002478815
• dbSNP Id: rs876660601
• MyVariant Identifiers: chr17:g.41242984G>A (hg19) ; chr17:g.43090967G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43090967G>A , CM000679.2:g.43090967G>A	GRCh38
NC_000017.10:g.41242984G>A , CM000679.1:g.41242984G>A	GRCh37
NC_000017.9:g.38496510G>A	NCBI36
NG_005905.2:g.127017C>T , LRG_292:g.127017C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4162C>T	ENSP00000417241.2:p.Gln1388Ter
ENST00000470026.6:c.4162C>T	ENSP00000419274.2:p.Gln1388Ter
ENST00000473961.6:c.4036C>T	ENSP00000420201.2:p.Gln1346Ter
ENST00000476777.6:c.4159C>T	ENSP00000417554.2:p.Gln1387Ter
ENST00000477152.6:c.4084C>T	ENSP00000419988.2:p.Gln1362Ter
ENST00000478531.6:c.850C>T	ENSP00000420412.2:p.Gln284Ter
ENST00000489037.2:c.4084C>T	ENSP00000420781.2:p.Gln1362Ter
ENST00000493919.6:c.712C>T	ENSP00000418819.2:p.Gln238Ter
ENST00000494123.6:c.4162C>T	ENSP00000419103.2:p.Gln1388Ter
ENST00000497488.2:c.3274C>T	ENSP00000418986.2:p.Gln1092Ter
ENST00000618469.2:c.4162C>T	ENSP00000478114.2:p.Gln1388Ter
ENST00000634433.2:c.4039C>T	ENSP00000489431.2:p.Gln1347Ter
ENST00000644379.2:c.4162C>T	ENSP00000496570.2:p.Gln1388Ter
ENST00000644555.2:c.712C>T	ENSP00000494614.2:p.Gln238Ter
ENST00000652672.2:c.4021C>T	ENSP00000498906.2:p.Gln1341Ter
ENST00000484087.6:c.730C>T	ENSP00000419481.2:p.Gln244Ter
ENST00000700182.1:c.772C>T	ENSP00000514849.1:p.Gln258Ter
ENST00000357654.9:c.4162C>T MANE Select	ENSP00000350283.3:p.Gln1388Ter
ENST00000471181.7:c.4162C>T	ENSP00000418960.2:p.Gln1388Ter
ENST00000644379.1:c.483C>T
ENST00000352993.7:c.736C>T	ENSP00000312236.5:p.Gln246Ter
ENST00000357654.7:c.4162C>T	ENSP00000350283.3:p.Gln1388Ter
ENST00000461221.5:c.*3945C>T	ENSP00000418548.1:n.*3945C>T
ENST00000461574.1:c.456C>T
ENST00000468300.5:c.853C>T	ENSP00000417148.1:p.Gln285Ter
ENST00000471181.6:c.4162C>T	ENSP00000418960.2:p.Gln1388Ter
ENST00000478531.5:c.850C>T	ENSP00000420412.1:p.Gln284Ter
ENST00000484087.5:c.475C>T	ENSP00000419481.1:p.Gln159Ter
ENST00000487825.5:c.478C>T	ENSP00000418212.1:p.Gln160Ter
ENST00000491747.6:c.853C>T	ENSP00000420705.2:p.Gln285Ter
ENST00000493795.5:c.4021C>T	ENSP00000418775.1:p.Gln1341Ter
ENST00000493919.5:c.712C>T	ENSP00000418819.1:p.Gln238Ter
ENST00000586385.5:c.5-27016C>T	ENSP00000465818.1:n.5-27016C>T
ENST00000591534.5:c.-43-16446C>T	ENSP00000467329.1:n.-43-16446C>T
ENST00000591849.5:c.-99+34304C>T	ENSP00000465347.1:n.-99+34304C>T
NM_007294.3:c.4162C>T , LRG_292t1:c.4162C>T	NP_009225.1:p.Gln1388Ter
NM_007297.3:c.4021C>T	NP_009228.2:p.Gln1341Ter
NM_007298.3:c.853C>T	NP_009229.2:p.Gln285Ter
NM_007299.3:c.853C>T	NP_009230.2:p.Gln285Ter
NM_007300.3:c.4162C>T	NP_009231.2:p.Gln1388Ter
NR_027676.1:n.4298C>T
NM_007294.4:c.4162C>T MANE Select	NP_009225.1:p.Gln1388Ter
NM_007297.4:c.4021C>T	NP_009228.2:p.Gln1341Ter
NM_007299.4:c.853C>T	NP_009230.2:p.Gln285Ter
NM_007300.4:c.4162C>T	NP_009231.2:p.Gln1388Ter
NR_027676.2:n.4339C>T