Canonical Allele Identifier: CA500146791

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1740725
• ClinVar RCV Id: RCV002328376
• dbSNP Id: rs2154060843
• MyVariant Identifiers: chr17:g.41228534G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076517G>A , CM000679.2:g.43076517G>A	GRCh38
NC_000017.10:g.41228534G>A , CM000679.1:g.41228534G>A	GRCh37
NC_000017.9:g.38482060G>A	NCBI36
NG_005905.2:g.141467C>T , LRG_292:g.141467C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4452C>T	ENSP00000417241.2:p.Thr1484=
ENST00000470026.6:c.4455C>T	ENSP00000419274.2:p.Thr1485=
ENST00000473961.6:c.4329C>T	ENSP00000420201.2:p.Thr1443=
ENST00000476777.6:c.4449C>T	ENSP00000417554.2:p.Thr1483=
ENST00000477152.6:c.4377C>T	ENSP00000419988.2:p.Thr1459=
ENST00000478531.6:c.1143C>T	ENSP00000420412.2:p.Thr381=
ENST00000489037.2:c.4377C>T	ENSP00000420781.2:p.Thr1459=
ENST00000493919.6:c.1005C>T	ENSP00000418819.2:p.Thr335=
ENST00000494123.6:c.4455C>T	ENSP00000419103.2:p.Thr1485=
ENST00000497488.2:c.3567C>T	ENSP00000418986.2:p.Thr1189=
ENST00000618469.2:c.4455C>T	ENSP00000478114.2:p.Thr1485=
ENST00000634433.2:c.4332C>T	ENSP00000489431.2:p.Thr1444=
ENST00000644379.2:c.4521C>T	ENSP00000496570.2:p.Thr1507=
ENST00000644555.2:c.1005C>T	ENSP00000494614.2:p.Thr335=
ENST00000652672.2:c.4314C>T	ENSP00000498906.2:p.Thr1438=
ENST00000484087.6:c.1017C>T	ENSP00000419481.2:p.Thr339=
ENST00000700182.1:c.1062C>T	ENSP00000514849.1:p.Thr354=
ENST00000357654.9:c.4455C>T MANE Select	ENSP00000350283.3:p.Thr1485=
ENST00000471181.7:c.4518C>T	ENSP00000418960.2:p.Thr1506=
ENST00000644379.1:c.842C>T
ENST00000352993.7:c.1029C>T	ENSP00000312236.5:p.Thr343=
ENST00000357654.7:c.4455C>T	ENSP00000350283.3:p.Thr1485=
ENST00000461221.5:c.*4238C>T	ENSP00000418548.1:n.*4238C>T
ENST00000468300.5:c.1143C>T	ENSP00000417148.1:p.Thr381=
ENST00000471181.6:c.4518C>T	ENSP00000418960.2:p.Thr1506=
ENST00000478531.5:c.1143C>T	ENSP00000420412.1:p.Thr381=
ENST00000484087.5:c.768C>T	ENSP00000419481.1:p.Thr256=
ENST00000487825.5:c.771C>T	ENSP00000418212.1:p.Thr257=
ENST00000491747.6:c.1143C>T	ENSP00000420705.2:p.Thr381=
ENST00000493795.5:c.4314C>T	ENSP00000418775.1:p.Thr1438=
ENST00000493919.5:c.1005C>T	ENSP00000418819.1:p.Thr335=
ENST00000586385.5:c.5-12566C>T	ENSP00000465818.1:n.5-12566C>T
ENST00000591534.5:c.-43-1996C>T	ENSP00000467329.1:n.-43-1996C>T
ENST00000591849.5:c.-98-26327C>T	ENSP00000465347.1:n.-98-26327C>T
ENST00000621897.1:n.346C>T
NM_007294.3:c.4455C>T , LRG_292t1:c.4455C>T	NP_009225.1:p.Thr1485=
NM_007297.3:c.4314C>T	NP_009228.2:p.Thr1438=
NM_007298.3:c.1143C>T	NP_009229.2:p.Thr381=
NM_007299.3:c.1143C>T	NP_009230.2:p.Thr381=
NM_007300.3:c.4518C>T	NP_009231.2:p.Thr1506=
NR_027676.1:n.4591C>T
NM_007294.4:c.4455C>T MANE Select	NP_009225.1:p.Thr1485=
NM_007297.4:c.4314C>T	NP_009228.2:p.Thr1438=
NM_007299.4:c.1143C>T	NP_009230.2:p.Thr381=
NM_007300.4:c.4518C>T	NP_009231.2:p.Thr1506=
NR_027676.2:n.4632C>T