Canonical Allele Identifier: CA337710

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 216105
• ClinVar RCV Id: RCV000198178 ; RCV000241009
• dbSNP Id: rs863224511
• MyVariant Identifiers: chr17:g.41228515C>A (hg19) ; chr17:g.43076498C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076498C>A , CM000679.2:g.43076498C>A	GRCh38
NC_000017.10:g.41228515C>A , CM000679.1:g.41228515C>A	GRCh37
NC_000017.9:g.38482041C>A	NCBI36
NG_005905.2:g.141486G>T , LRG_292:g.141486G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4471G>T	ENSP00000417241.2:p.Gly1491Ter
ENST00000470026.6:c.4474G>T	ENSP00000419274.2:p.Gly1492Ter
ENST00000473961.6:c.4348G>T	ENSP00000420201.2:p.Gly1450Ter
ENST00000476777.6:c.4468G>T	ENSP00000417554.2:p.Gly1490Ter
ENST00000477152.6:c.4396G>T	ENSP00000419988.2:p.Gly1466Ter
ENST00000478531.6:c.1162G>T	ENSP00000420412.2:p.Gly388Ter
ENST00000489037.2:c.4396G>T	ENSP00000420781.2:p.Gly1466Ter
ENST00000493919.6:c.1024G>T	ENSP00000418819.2:p.Gly342Ter
ENST00000494123.6:c.4474G>T	ENSP00000419103.2:p.Gly1492Ter
ENST00000497488.2:c.3586G>T	ENSP00000418986.2:p.Gly1196Ter
ENST00000618469.2:c.4474G>T	ENSP00000478114.2:p.Gly1492Ter
ENST00000634433.2:c.4351G>T	ENSP00000489431.2:p.Gly1451Ter
ENST00000644379.2:c.4540G>T	ENSP00000496570.2:p.Gly1514Ter
ENST00000644555.2:c.1024G>T	ENSP00000494614.2:p.Gly342Ter
ENST00000652672.2:c.4333G>T	ENSP00000498906.2:p.Gly1445Ter
ENST00000484087.6:c.1036G>T	ENSP00000419481.2:p.Gly346Ter
ENST00000700182.1:c.1081G>T	ENSP00000514849.1:p.Gly361Ter
ENST00000357654.9:c.4474G>T MANE Select	ENSP00000350283.3:p.Gly1492Ter
ENST00000471181.7:c.4537G>T	ENSP00000418960.2:p.Gly1513Ter
ENST00000644379.1:c.861G>T
ENST00000352993.7:c.1048G>T	ENSP00000312236.5:p.Gly350Ter
ENST00000357654.7:c.4474G>T	ENSP00000350283.3:p.Gly1492Ter
ENST00000461221.5:c.*4257G>T	ENSP00000418548.1:n.*4257G>T
ENST00000468300.5:c.1162G>T	ENSP00000417148.1:p.Gly388Ter
ENST00000471181.6:c.4537G>T	ENSP00000418960.2:p.Gly1513Ter
ENST00000478531.5:c.1162G>T	ENSP00000420412.1:p.Gly388Ter
ENST00000484087.5:c.787G>T	ENSP00000419481.1:p.Gly263Ter
ENST00000487825.5:c.790G>T	ENSP00000418212.1:p.Gly264Ter
ENST00000491747.6:c.1162G>T	ENSP00000420705.2:p.Gly388Ter
ENST00000493795.5:c.4333G>T	ENSP00000418775.1:p.Gly1445Ter
ENST00000493919.5:c.1024G>T	ENSP00000418819.1:p.Gly342Ter
ENST00000586385.5:c.5-12547G>T	ENSP00000465818.1:n.5-12547G>T
ENST00000591534.5:c.-43-1977G>T	ENSP00000467329.1:n.-43-1977G>T
ENST00000591849.5:c.-98-26308G>T	ENSP00000465347.1:n.-98-26308G>T
ENST00000621897.1:n.365G>T
NM_007294.3:c.4474G>T , LRG_292t1:c.4474G>T	NP_009225.1:p.Gly1492Ter
NM_007297.3:c.4333G>T	NP_009228.2:p.Gly1445Ter
NM_007298.3:c.1162G>T	NP_009229.2:p.Gly388Ter
NM_007299.3:c.1162G>T	NP_009230.2:p.Gly388Ter
NM_007300.3:c.4537G>T	NP_009231.2:p.Gly1513Ter
NR_027676.1:n.4610G>T
NM_007294.4:c.4474G>T MANE Select	NP_009225.1:p.Gly1492Ter
NM_007297.4:c.4333G>T	NP_009228.2:p.Gly1445Ter
NM_007299.4:c.1162G>T	NP_009230.2:p.Gly388Ter
NM_007300.4:c.4537G>T	NP_009231.2:p.Gly1513Ter
NR_027676.2:n.4651G>T