Canonical Allele Identifier: CA500148401

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1739168
• ClinVar RCV Id: RCV002329943
• dbSNP Id: rs1567783343
• MyVariant Identifiers: chr17:g.41234518C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082501C>T , CM000679.2:g.43082501C>T	GRCh38
NC_000017.10:g.41234518C>T , CM000679.1:g.41234518C>T	GRCh37
NC_000017.9:g.38488044C>T	NCBI36
NG_005905.2:g.135483G>A , LRG_292:g.135483G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4260G>A	ENSP00000417241.2:p.Gln1420=
ENST00000470026.6:c.4260G>A	ENSP00000419274.2:p.Gln1420=
ENST00000473961.6:c.4134G>A	ENSP00000420201.2:p.Gln1378=
ENST00000476777.6:c.4254G>A	ENSP00000417554.2:p.Gln1418=
ENST00000477152.6:c.4182G>A	ENSP00000419988.2:p.Gln1394=
ENST00000478531.6:c.948G>A	ENSP00000420412.2:p.Gln316=
ENST00000489037.2:c.4182G>A	ENSP00000420781.2:p.Gln1394=
ENST00000493919.6:c.810G>A	ENSP00000418819.2:p.Gln270=
ENST00000494123.6:c.4260G>A	ENSP00000419103.2:p.Gln1420=
ENST00000497488.2:c.3372G>A	ENSP00000418986.2:p.Gln1124=
ENST00000618469.2:c.4260G>A	ENSP00000478114.2:p.Gln1420=
ENST00000634433.2:c.4137G>A	ENSP00000489431.2:p.Gln1379=
ENST00000644379.2:c.4260G>A	ENSP00000496570.2:p.Gln1420=
ENST00000644555.2:c.810G>A	ENSP00000494614.2:p.Gln270=
ENST00000652672.2:c.4119G>A	ENSP00000498906.2:p.Gln1373=
ENST00000484087.6:c.825G>A	ENSP00000419481.2:p.Gln275=
ENST00000700182.1:c.870G>A	ENSP00000514849.1:p.Gln290=
ENST00000357654.9:c.4260G>A MANE Select	ENSP00000350283.3:p.Gln1420=
ENST00000471181.7:c.4260G>A	ENSP00000418960.2:p.Gln1420=
ENST00000644379.1:c.581G>A
ENST00000352993.7:c.834G>A	ENSP00000312236.5:p.Gln278=
ENST00000357654.7:c.4260G>A	ENSP00000350283.3:p.Gln1420=
ENST00000461221.5:c.*4043G>A	ENSP00000418548.1:n.*4043G>A
ENST00000461574.1:c.554G>A
ENST00000468300.5:c.951G>A	ENSP00000417148.1:p.Gln317=
ENST00000471181.6:c.4260G>A	ENSP00000418960.2:p.Gln1420=
ENST00000478531.5:c.948G>A	ENSP00000420412.1:p.Gln316=
ENST00000484087.5:c.573G>A	ENSP00000419481.1:p.Gln191=
ENST00000487825.5:c.576G>A	ENSP00000418212.1:p.Gln192=
ENST00000491747.6:c.951G>A	ENSP00000420705.2:p.Gln317=
ENST00000493795.5:c.4119G>A	ENSP00000418775.1:p.Gln1373=
ENST00000493919.5:c.810G>A	ENSP00000418819.1:p.Gln270=
ENST00000586385.5:c.5-18550G>A	ENSP00000465818.1:n.5-18550G>A
ENST00000591534.5:c.-43-7980G>A	ENSP00000467329.1:n.-43-7980G>A
ENST00000591849.5:c.-98-32311G>A	ENSP00000465347.1:n.-98-32311G>A
ENST00000621897.1:n.154G>A
NM_007294.3:c.4260G>A , LRG_292t1:c.4260G>A	NP_009225.1:p.Gln1420=
NM_007297.3:c.4119G>A	NP_009228.2:p.Gln1373=
NM_007298.3:c.951G>A	NP_009229.2:p.Gln317=
NM_007299.3:c.951G>A	NP_009230.2:p.Gln317=
NM_007300.3:c.4260G>A	NP_009231.2:p.Gln1420=
NR_027676.1:n.4396G>A
NM_007294.4:c.4260G>A MANE Select	NP_009225.1:p.Gln1420=
NM_007297.4:c.4119G>A	NP_009228.2:p.Gln1373=
NM_007299.4:c.951G>A	NP_009230.2:p.Gln317=
NM_007300.4:c.4260G>A	NP_009231.2:p.Gln1420=
NR_027676.2:n.4437G>A