Canonical Allele Identifier: CA500148386

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 479246
• ClinVar RCV Id: RCV000561545
• dbSNP Id: rs397509160
• MyVariant Identifiers: chr17:g.41234491G>A (hg19) ; chr17:g.43082474G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082474G>A , CM000679.2:g.43082474G>A	GRCh38
NC_000017.10:g.41234491G>A , CM000679.1:g.41234491G>A	GRCh37
NC_000017.9:g.38488017G>A	NCBI36
NG_005905.2:g.135510C>T , LRG_292:g.135510C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4287C>T	ENSP00000417241.2:p.Tyr1429=
ENST00000470026.6:c.4287C>T	ENSP00000419274.2:p.Tyr1429=
ENST00000473961.6:c.4161C>T	ENSP00000420201.2:p.Tyr1387=
ENST00000476777.6:c.4281C>T	ENSP00000417554.2:p.Tyr1427=
ENST00000477152.6:c.4209C>T	ENSP00000419988.2:p.Tyr1403=
ENST00000478531.6:c.975C>T	ENSP00000420412.2:p.Tyr325=
ENST00000489037.2:c.4209C>T	ENSP00000420781.2:p.Tyr1403=
ENST00000493919.6:c.837C>T	ENSP00000418819.2:p.Tyr279=
ENST00000494123.6:c.4287C>T	ENSP00000419103.2:p.Tyr1429=
ENST00000497488.2:c.3399C>T	ENSP00000418986.2:p.Tyr1133=
ENST00000618469.2:c.4287C>T	ENSP00000478114.2:p.Tyr1429=
ENST00000634433.2:c.4164C>T	ENSP00000489431.2:p.Tyr1388=
ENST00000644379.2:c.4287C>T	ENSP00000496570.2:p.Tyr1429=
ENST00000644555.2:c.837C>T	ENSP00000494614.2:p.Tyr279=
ENST00000652672.2:c.4146C>T	ENSP00000498906.2:p.Tyr1382=
ENST00000484087.6:c.852C>T	ENSP00000419481.2:p.Tyr284=
ENST00000700182.1:c.897C>T	ENSP00000514849.1:p.Tyr299=
ENST00000357654.9:c.4287C>T MANE Select	ENSP00000350283.3:p.Tyr1429=
ENST00000471181.7:c.4287C>T	ENSP00000418960.2:p.Tyr1429=
ENST00000644379.1:c.608C>T
ENST00000352993.7:c.861C>T	ENSP00000312236.5:p.Tyr287=
ENST00000357654.7:c.4287C>T	ENSP00000350283.3:p.Tyr1429=
ENST00000461221.5:c.*4070C>T	ENSP00000418548.1:n.*4070C>T
ENST00000461574.1:c.581C>T
ENST00000468300.5:c.978C>T	ENSP00000417148.1:p.Tyr326=
ENST00000471181.6:c.4287C>T	ENSP00000418960.2:p.Tyr1429=
ENST00000478531.5:c.975C>T	ENSP00000420412.1:p.Tyr325=
ENST00000484087.5:c.600C>T	ENSP00000419481.1:p.Tyr200=
ENST00000487825.5:c.603C>T	ENSP00000418212.1:p.Tyr201=
ENST00000491747.6:c.978C>T	ENSP00000420705.2:p.Tyr326=
ENST00000493795.5:c.4146C>T	ENSP00000418775.1:p.Tyr1382=
ENST00000493919.5:c.837C>T	ENSP00000418819.1:p.Tyr279=
ENST00000586385.5:c.5-18523C>T	ENSP00000465818.1:n.5-18523C>T
ENST00000591534.5:c.-43-7953C>T	ENSP00000467329.1:n.-43-7953C>T
ENST00000591849.5:c.-98-32284C>T	ENSP00000465347.1:n.-98-32284C>T
ENST00000621897.1:n.181C>T
NM_007294.3:c.4287C>T , LRG_292t1:c.4287C>T	NP_009225.1:p.Tyr1429=
NM_007297.3:c.4146C>T	NP_009228.2:p.Tyr1382=
NM_007298.3:c.978C>T	NP_009229.2:p.Tyr326=
NM_007299.3:c.978C>T	NP_009230.2:p.Tyr326=
NM_007300.3:c.4287C>T	NP_009231.2:p.Tyr1429=
NR_027676.1:n.4423C>T
NM_007294.4:c.4287C>T MANE Select	NP_009225.1:p.Tyr1429=
NM_007297.4:c.4146C>T	NP_009228.2:p.Tyr1382=
NM_007299.4:c.978C>T	NP_009230.2:p.Tyr326=
NM_007300.4:c.4287C>T	NP_009231.2:p.Tyr1429=
NR_027676.2:n.4464C>T