Canonical Allele Identifier: CA10592252

Gene: BRCA1

Linked Data

• dbSNP Id: rs2153997665
• MyVariant Identifiers: chr17:g.41226395C>A (hg19) ; chr17:g.43074378C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074378C>A , CM000679.2:g.43074378C>A	GRCh38
NC_000017.10:g.41226395C>A , CM000679.1:g.41226395C>A	GRCh37
NC_000017.9:g.38479921C>A	NCBI36
NG_005905.2:g.143606G>T , LRG_292:g.143606G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4625G>T	ENSP00000417241.2:p.Gly1542Val
ENST00000470026.6:c.4628G>T	ENSP00000419274.2:p.Gly1543Val
ENST00000473961.6:c.4502G>T	ENSP00000420201.2:p.Gly1501Val
ENST00000476777.6:c.4622G>T	ENSP00000417554.2:p.Gly1541Val
ENST00000477152.6:c.4550G>T	ENSP00000419988.2:p.Gly1517Val
ENST00000478531.6:c.1316G>T	ENSP00000420412.2:p.Gly439Val
ENST00000489037.2:c.4550G>T	ENSP00000420781.2:p.Gly1517Val
ENST00000493919.6:c.1178G>T	ENSP00000418819.2:p.Gly393Val
ENST00000494123.6:c.4628G>T	ENSP00000419103.2:p.Gly1543Val
ENST00000497488.2:c.3740G>T	ENSP00000418986.2:p.Gly1247Val
ENST00000618469.2:c.4628G>T	ENSP00000478114.2:p.Gly1543Val
ENST00000634433.2:c.4505G>T	ENSP00000489431.2:p.Gly1502Val
ENST00000644379.2:c.4694G>T	ENSP00000496570.2:p.Gly1565Val
ENST00000644555.2:c.1178G>T	ENSP00000494614.2:p.Gly393Val
ENST00000652672.2:c.4487G>T	ENSP00000498906.2:p.Gly1496Val
ENST00000484087.6:c.1190G>T	ENSP00000419481.2:p.Gly397Val
ENST00000700182.1:c.1235G>T	ENSP00000514849.1:p.Gly412Val
ENST00000357654.9:c.4628G>T MANE Select	ENSP00000350283.3:p.Gly1543Val
ENST00000471181.7:c.4691G>T	ENSP00000418960.2:p.Gly1564Val
ENST00000644379.1:c.1015G>T
ENST00000352993.7:c.1202G>T	ENSP00000312236.5:p.Gly401Val
ENST00000357654.7:c.4628G>T	ENSP00000350283.3:p.Gly1543Val
ENST00000461221.5:c.*4411G>T	ENSP00000418548.1:n.*4411G>T
ENST00000468300.5:c.1316G>T	ENSP00000417148.1:p.Gly439Val
ENST00000471181.6:c.4691G>T	ENSP00000418960.2:p.Gly1564Val
ENST00000478531.5:c.1316G>T	ENSP00000420412.1:p.Gly439Val
ENST00000484087.5:c.941G>T	ENSP00000419481.1:p.Gly314Val
ENST00000491747.6:c.1316G>T	ENSP00000420705.2:p.Gly439Val
ENST00000493795.5:c.4487G>T	ENSP00000418775.1:p.Gly1496Val
ENST00000493919.5:c.1178G>T	ENSP00000418819.1:p.Gly393Val
ENST00000586385.5:c.5-10427G>T	ENSP00000465818.1:n.5-10427G>T
ENST00000591534.5:c.101G>T	ENSP00000467329.1:p.Gly34Val
ENST00000591849.5:c.-98-24188G>T	ENSP00000465347.1:n.-98-24188G>T
NM_007294.3:c.4628G>T , LRG_292t1:c.4628G>T	NP_009225.1:p.Gly1543Val
NM_007297.3:c.4487G>T	NP_009228.2:p.Gly1496Val
NM_007298.3:c.1316G>T	NP_009229.2:p.Gly439Val
NM_007299.3:c.1316G>T	NP_009230.2:p.Gly439Val
NM_007300.3:c.4691G>T	NP_009231.2:p.Gly1564Val
NR_027676.1:n.4764G>T
NM_007294.4:c.4628G>T MANE Select	NP_009225.1:p.Gly1543Val
NM_007297.4:c.4487G>T	NP_009228.2:p.Gly1496Val
NM_007299.4:c.1316G>T	NP_009230.2:p.Gly439Val
NM_007300.4:c.4691G>T	NP_009231.2:p.Gly1564Val
NR_027676.2:n.4805G>T