Canonical Allele Identifier: CA060235

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 427349
• ClinVar RCV Id: RCV000494872 ; RCV002526049
• dbSNP Id: rs749522068
• ExAC: 17:41228576 G / A
• MyVariant Identifiers: chr17:g.41228576G>A (hg19) ; chr17:g.43076559G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076559G>A , CM000679.2:g.43076559G>A	GRCh38
NC_000017.10:g.41228576G>A , CM000679.1:g.41228576G>A	GRCh37
NC_000017.9:g.38482102G>A	NCBI36
NG_005905.2:g.141425C>T , LRG_292:g.141425C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4410C>T	ENSP00000417241.2:p.Gly1470=
ENST00000470026.6:c.4413C>T	ENSP00000419274.2:p.Gly1471=
ENST00000473961.6:c.4287C>T	ENSP00000420201.2:p.Gly1429=
ENST00000476777.6:c.4407C>T	ENSP00000417554.2:p.Gly1469=
ENST00000477152.6:c.4335C>T	ENSP00000419988.2:p.Gly1445=
ENST00000478531.6:c.1101C>T	ENSP00000420412.2:p.Gly367=
ENST00000489037.2:c.4335C>T	ENSP00000420781.2:p.Gly1445=
ENST00000493919.6:c.963C>T	ENSP00000418819.2:p.Gly321=
ENST00000494123.6:c.4413C>T	ENSP00000419103.2:p.Gly1471=
ENST00000497488.2:c.3525C>T	ENSP00000418986.2:p.Gly1175=
ENST00000618469.2:c.4413C>T	ENSP00000478114.2:p.Gly1471=
ENST00000634433.2:c.4290C>T	ENSP00000489431.2:p.Gly1430=
ENST00000644379.2:c.4479C>T	ENSP00000496570.2:p.Gly1493=
ENST00000644555.2:c.963C>T	ENSP00000494614.2:p.Gly321=
ENST00000652672.2:c.4272C>T	ENSP00000498906.2:p.Gly1424=
ENST00000484087.6:c.975C>T	ENSP00000419481.2:p.Gly325=
ENST00000700182.1:c.1020C>T	ENSP00000514849.1:p.Gly340=
ENST00000357654.9:c.4413C>T MANE Select	ENSP00000350283.3:p.Gly1471=
ENST00000471181.7:c.4476C>T	ENSP00000418960.2:p.Gly1492=
ENST00000644379.1:c.800C>T
ENST00000352993.7:c.987C>T	ENSP00000312236.5:p.Gly329=
ENST00000357654.7:c.4413C>T	ENSP00000350283.3:p.Gly1471=
ENST00000461221.5:c.*4196C>T	ENSP00000418548.1:n.*4196C>T
ENST00000461574.1:c.704C>T
ENST00000468300.5:c.1101C>T	ENSP00000417148.1:p.Gly367=
ENST00000471181.6:c.4476C>T	ENSP00000418960.2:p.Gly1492=
ENST00000478531.5:c.1101C>T	ENSP00000420412.1:p.Gly367=
ENST00000484087.5:c.726C>T	ENSP00000419481.1:p.Gly242=
ENST00000487825.5:c.729C>T	ENSP00000418212.1:p.Gly243=
ENST00000491747.6:c.1101C>T	ENSP00000420705.2:p.Gly367=
ENST00000493795.5:c.4272C>T	ENSP00000418775.1:p.Gly1424=
ENST00000493919.5:c.963C>T	ENSP00000418819.1:p.Gly321=
ENST00000586385.5:c.5-12608C>T	ENSP00000465818.1:n.5-12608C>T
ENST00000591534.5:c.-43-2038C>T	ENSP00000467329.1:n.-43-2038C>T
ENST00000591849.5:c.-98-26369C>T	ENSP00000465347.1:n.-98-26369C>T
ENST00000621897.1:n.304C>T
NM_007294.3:c.4413C>T , LRG_292t1:c.4413C>T	NP_009225.1:p.Gly1471=
NM_007297.3:c.4272C>T	NP_009228.2:p.Gly1424=
NM_007298.3:c.1101C>T	NP_009229.2:p.Gly367=
NM_007299.3:c.1101C>T	NP_009230.2:p.Gly367=
NM_007300.3:c.4476C>T	NP_009231.2:p.Gly1492=
NR_027676.1:n.4549C>T
NM_007294.4:c.4413C>T MANE Select	NP_009225.1:p.Gly1471=
NM_007297.4:c.4272C>T	NP_009228.2:p.Gly1424=
NM_007299.4:c.1101C>T	NP_009230.2:p.Gly367=
NM_007300.4:c.4476C>T	NP_009231.2:p.Gly1492=
NR_027676.2:n.4590C>T