Canonical Allele Identifier: CA003114

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55337
• ClinVar RCV Id: RCV000112437
• dbSNP Id: rs80357414
• MyVariant Identifiers: chr17:g.41222964C>T (hg19) ; chr17:g.43070947C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43070947C>T , CM000679.2:g.43070947C>T	GRCh38
NC_000017.10:g.41222964C>T , CM000679.1:g.41222964C>T	GRCh37
NC_000017.9:g.38476490C>T	NCBI36
NG_005905.2:g.147037G>A , LRG_292:g.147037G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4964G>A	ENSP00000417241.2:p.Gly1655Asp
ENST00000470026.6:c.4967G>A	ENSP00000419274.2:p.Gly1656Asp
ENST00000473961.6:c.4841G>A	ENSP00000420201.2:p.Gly1614Asp
ENST00000476777.6:c.4961G>A	ENSP00000417554.2:p.Gly1654Asp
ENST00000477152.6:c.4889G>A	ENSP00000419988.2:p.Gly1630Asp
ENST00000478531.6:c.1655G>A	ENSP00000420412.2:p.Gly552Asp
ENST00000489037.2:c.4889G>A	ENSP00000420781.2:p.Gly1630Asp
ENST00000493919.6:c.1517G>A	ENSP00000418819.2:p.Gly506Asp
ENST00000494123.6:c.4967G>A	ENSP00000419103.2:p.Gly1656Asp
ENST00000497488.2:c.4079G>A	ENSP00000418986.2:p.Gly1360Asp
ENST00000618469.2:c.4967G>A	ENSP00000478114.2:p.Gly1656Asp
ENST00000634433.2:c.4844G>A	ENSP00000489431.2:p.Gly1615Asp
ENST00000644379.2:c.5033G>A	ENSP00000496570.2:p.Gly1678Asp
ENST00000644555.2:c.1517G>A	ENSP00000494614.2:p.Gly506Asp
ENST00000652672.2:c.4826G>A	ENSP00000498906.2:p.Gly1609Asp
ENST00000484087.6:c.1529G>A	ENSP00000419481.2:p.Gly510Asp
ENST00000700182.1:c.1574G>A	ENSP00000514849.1:p.Gly525Asp
ENST00000357654.9:c.4967G>A MANE Select	ENSP00000350283.3:p.Gly1656Asp
ENST00000471181.7:c.5030G>A	ENSP00000418960.2:p.Gly1677Asp
ENST00000644379.1:c.1354G>A
ENST00000352993.7:c.1541G>A	ENSP00000312236.5:p.Gly514Asp
ENST00000357654.7:c.4967G>A	ENSP00000350283.3:p.Gly1656Asp
ENST00000461221.5:c.*4750G>A	ENSP00000418548.1:n.*4750G>A
ENST00000468300.5:c.1655G>A	ENSP00000417148.1:p.Gly552Asp
ENST00000471181.6:c.5030G>A	ENSP00000418960.2:p.Gly1677Asp
ENST00000472490.1:n.120G>A
ENST00000478531.5:c.1655G>A	ENSP00000420412.1:p.Gly552Asp
ENST00000484087.5:c.1280G>A	ENSP00000419481.1:p.Gly427Asp
ENST00000491747.6:c.1655G>A	ENSP00000420705.2:p.Gly552Asp
ENST00000493795.5:c.4826G>A	ENSP00000418775.1:p.Gly1609Asp
ENST00000493919.5:c.1517G>A	ENSP00000418819.1:p.Gly506Asp
ENST00000586385.5:c.5-6996G>A	ENSP00000465818.1:n.5-6996G>A
ENST00000591534.5:c.440G>A	ENSP00000467329.1:p.Gly147Asp
ENST00000591849.5:c.-98-20757G>A	ENSP00000465347.1:n.-98-20757G>A
NM_007294.3:c.4967G>A , LRG_292t1:c.4967G>A	NP_009225.1:p.Gly1656Asp
NM_007297.3:c.4826G>A	NP_009228.2:p.Gly1609Asp
NM_007298.3:c.1655G>A	NP_009229.2:p.Gly552Asp
NM_007299.3:c.1655G>A	NP_009230.2:p.Gly552Asp
NM_007300.3:c.5030G>A	NP_009231.2:p.Gly1677Asp
NR_027676.1:n.5103G>A
NM_007294.4:c.4967G>A MANE Select	NP_009225.1:p.Gly1656Asp
NM_007297.4:c.4826G>A	NP_009228.2:p.Gly1609Asp
NM_007299.4:c.1655G>A	NP_009230.2:p.Gly552Asp
NM_007300.4:c.5030G>A	NP_009231.2:p.Gly1677Asp
NR_027676.2:n.5144G>A