Canonical Allele Identifier: CA500148397

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 2005554
• ClinVar RCV Id: RCV002825304
• MyVariant Identifiers: chr17:g.41234512C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082495C>A , CM000679.2:g.43082495C>A	GRCh38
NC_000017.10:g.41234512C>A , CM000679.1:g.41234512C>A	GRCh37
NC_000017.9:g.38488038C>A	NCBI36
NG_005905.2:g.135489G>T , LRG_292:g.135489G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4266G>T	ENSP00000417241.2:p.Gly1422=
ENST00000470026.6:c.4266G>T	ENSP00000419274.2:p.Gly1422=
ENST00000473961.6:c.4140G>T	ENSP00000420201.2:p.Gly1380=
ENST00000476777.6:c.4260G>T	ENSP00000417554.2:p.Gly1420=
ENST00000477152.6:c.4188G>T	ENSP00000419988.2:p.Gly1396=
ENST00000478531.6:c.954G>T	ENSP00000420412.2:p.Gly318=
ENST00000489037.2:c.4188G>T	ENSP00000420781.2:p.Gly1396=
ENST00000493919.6:c.816G>T	ENSP00000418819.2:p.Gly272=
ENST00000494123.6:c.4266G>T	ENSP00000419103.2:p.Gly1422=
ENST00000497488.2:c.3378G>T	ENSP00000418986.2:p.Gly1126=
ENST00000618469.2:c.4266G>T	ENSP00000478114.2:p.Gly1422=
ENST00000634433.2:c.4143G>T	ENSP00000489431.2:p.Gly1381=
ENST00000644379.2:c.4266G>T	ENSP00000496570.2:p.Gly1422=
ENST00000644555.2:c.816G>T	ENSP00000494614.2:p.Gly272=
ENST00000652672.2:c.4125G>T	ENSP00000498906.2:p.Gly1375=
ENST00000484087.6:c.831G>T	ENSP00000419481.2:p.Gly277=
ENST00000700182.1:c.876G>T	ENSP00000514849.1:p.Gly292=
ENST00000357654.9:c.4266G>T MANE Select	ENSP00000350283.3:p.Gly1422=
ENST00000471181.7:c.4266G>T	ENSP00000418960.2:p.Gly1422=
ENST00000644379.1:c.587G>T
ENST00000352993.7:c.840G>T	ENSP00000312236.5:p.Gly280=
ENST00000357654.7:c.4266G>T	ENSP00000350283.3:p.Gly1422=
ENST00000461221.5:c.*4049G>T	ENSP00000418548.1:n.*4049G>T
ENST00000461574.1:c.560G>T
ENST00000468300.5:c.957G>T	ENSP00000417148.1:p.Gly319=
ENST00000471181.6:c.4266G>T	ENSP00000418960.2:p.Gly1422=
ENST00000478531.5:c.954G>T	ENSP00000420412.1:p.Gly318=
ENST00000484087.5:c.579G>T	ENSP00000419481.1:p.Gly193=
ENST00000487825.5:c.582G>T	ENSP00000418212.1:p.Gly194=
ENST00000491747.6:c.957G>T	ENSP00000420705.2:p.Gly319=
ENST00000493795.5:c.4125G>T	ENSP00000418775.1:p.Gly1375=
ENST00000493919.5:c.816G>T	ENSP00000418819.1:p.Gly272=
ENST00000586385.5:c.5-18544G>T	ENSP00000465818.1:n.5-18544G>T
ENST00000591534.5:c.-43-7974G>T	ENSP00000467329.1:n.-43-7974G>T
ENST00000591849.5:c.-98-32305G>T	ENSP00000465347.1:n.-98-32305G>T
ENST00000621897.1:n.160G>T
NM_007294.3:c.4266G>T , LRG_292t1:c.4266G>T	NP_009225.1:p.Gly1422=
NM_007297.3:c.4125G>T	NP_009228.2:p.Gly1375=
NM_007298.3:c.957G>T	NP_009229.2:p.Gly319=
NM_007299.3:c.957G>T	NP_009230.2:p.Gly319=
NM_007300.3:c.4266G>T	NP_009231.2:p.Gly1422=
NR_027676.1:n.4402G>T
NM_007294.4:c.4266G>T MANE Select	NP_009225.1:p.Gly1422=
NM_007297.4:c.4125G>T	NP_009228.2:p.Gly1375=
NM_007299.4:c.957G>T	NP_009230.2:p.Gly319=
NM_007300.4:c.4266G>T	NP_009231.2:p.Gly1422=
NR_027676.2:n.4443G>T