Canonical Allele Identifier: CA500144734

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 867257
• ClinVar RCV Id: RCV001075906 ; RCV002554775
• dbSNP Id: rs2051516300
• MyVariant Identifiers: chr17:g.41209117T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43057100T>A , CM000679.2:g.43057100T>A	GRCh38
NC_000017.10:g.41209117T>A , CM000679.1:g.41209117T>A	GRCh37
NC_000017.9:g.38462643T>A	NCBI36
NG_005905.2:g.160884A>T , LRG_292:g.160884A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5226A>T	ENSP00000417241.2:p.Gly1742=
ENST00000470026.6:c.5229A>T	ENSP00000419274.2:p.Gly1743=
ENST00000473961.6:c.5103A>T	ENSP00000420201.2:p.Gly1701=
ENST00000476777.6:c.5223A>T	ENSP00000417554.2:p.Gly1741=
ENST00000477152.6:c.5151A>T	ENSP00000419988.2:p.Gly1717=
ENST00000478531.6:c.1917A>T	ENSP00000420412.2:p.Gly639=
ENST00000489037.2:c.5151A>T	ENSP00000420781.2:p.Gly1717=
ENST00000493919.6:c.1779A>T	ENSP00000418819.2:p.Gly593=
ENST00000494123.6:c.5229A>T	ENSP00000419103.2:p.Gly1743=
ENST00000497488.2:c.4341A>T	ENSP00000418986.2:p.Gly1447=
ENST00000618469.2:c.5229A>T	ENSP00000478114.2:p.Gly1743=
ENST00000634433.2:c.5106A>T	ENSP00000489431.2:p.Gly1702=
ENST00000644379.2:c.5295A>T	ENSP00000496570.2:p.Gly1765=
ENST00000644555.2:c.1779A>T	ENSP00000494614.2:p.Gly593=
ENST00000652672.2:c.5088A>T	ENSP00000498906.2:p.Gly1696=
ENST00000484087.6:c.1791A>T	ENSP00000419481.2:p.Gly597=
ENST00000357654.9:c.5229A>T MANE Select	ENSP00000350283.3:p.Gly1743=
ENST00000471181.7:c.5292A>T	ENSP00000418960.2:p.Gly1764=
ENST00000644379.1:c.1616A>T
ENST00000352993.7:c.1803A>T	ENSP00000312236.5:p.Gly601=
ENST00000357654.7:c.5229A>T	ENSP00000350283.3:p.Gly1743=
ENST00000461221.5:c.*5012A>T	ENSP00000418548.1:n.*5012A>T
ENST00000468300.5:c.1917A>T	ENSP00000417148.1:p.Gly639=
ENST00000471181.6:c.5292A>T	ENSP00000418960.2:p.Gly1764=
ENST00000491747.6:c.1917A>T	ENSP00000420705.2:p.Gly639=
ENST00000493795.5:c.5088A>T	ENSP00000418775.1:p.Gly1696=
ENST00000586385.5:c.159A>T	ENSP00000465818.1:p.Gly53=
ENST00000591534.5:c.702A>T	ENSP00000467329.1:p.Gly234=
ENST00000591849.5:c.-98-6910A>T	ENSP00000465347.1:n.-98-6910A>T
NM_007294.3:c.5229A>T , LRG_292t1:c.5229A>T	NP_009225.1:p.Gly1743=
NM_007297.3:c.5088A>T	NP_009228.2:p.Gly1696=
NM_007298.3:c.1917A>T	NP_009229.2:p.Gly639=
NM_007299.3:c.1917A>T	NP_009230.2:p.Gly639=
NM_007300.3:c.5292A>T	NP_009231.2:p.Gly1764=
NR_027676.1:n.5365A>T
NM_007294.4:c.5229A>T MANE Select	NP_009225.1:p.Gly1743=
NM_007297.4:c.5088A>T	NP_009228.2:p.Gly1696=
NM_007299.4:c.1917A>T	NP_009230.2:p.Gly639=
NM_007300.4:c.5292A>T	NP_009231.2:p.Gly1764=
NR_027676.2:n.5406A>T