Canonical Allele Identifier: CA10593262

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 918553
• ClinVar RCV Id: RCV001176211
• dbSNP Id: rs2053062712
• MyVariant Identifiers: chr17:g.41234549T>A (hg19) ; chr17:g.43082532T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082532T>A , CM000679.2:g.43082532T>A	GRCh38
NC_000017.10:g.41234549T>A , CM000679.1:g.41234549T>A	GRCh37
NC_000017.9:g.38488075T>A	NCBI36
NG_005905.2:g.135452A>T , LRG_292:g.135452A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4229A>T	ENSP00000417241.2:p.Glu1410Val
ENST00000470026.6:c.4229A>T	ENSP00000419274.2:p.Glu1410Val
ENST00000473961.6:c.4103A>T	ENSP00000420201.2:p.Glu1368Val
ENST00000476777.6:c.4223A>T	ENSP00000417554.2:p.Glu1408Val
ENST00000477152.6:c.4151A>T	ENSP00000419988.2:p.Glu1384Val
ENST00000478531.6:c.917A>T	ENSP00000420412.2:p.Glu306Val
ENST00000489037.2:c.4151A>T	ENSP00000420781.2:p.Glu1384Val
ENST00000493919.6:c.779A>T	ENSP00000418819.2:p.Glu260Val
ENST00000494123.6:c.4229A>T	ENSP00000419103.2:p.Glu1410Val
ENST00000497488.2:c.3341A>T	ENSP00000418986.2:p.Glu1114Val
ENST00000618469.2:c.4229A>T	ENSP00000478114.2:p.Glu1410Val
ENST00000634433.2:c.4106A>T	ENSP00000489431.2:p.Glu1369Val
ENST00000644379.2:c.4229A>T	ENSP00000496570.2:p.Glu1410Val
ENST00000644555.2:c.779A>T	ENSP00000494614.2:p.Glu260Val
ENST00000652672.2:c.4088A>T	ENSP00000498906.2:p.Glu1363Val
ENST00000484087.6:c.794A>T	ENSP00000419481.2:p.Glu265Val
ENST00000700182.1:c.839A>T	ENSP00000514849.1:p.Glu280Val
ENST00000357654.9:c.4229A>T MANE Select	ENSP00000350283.3:p.Glu1410Val
ENST00000471181.7:c.4229A>T	ENSP00000418960.2:p.Glu1410Val
ENST00000644379.1:c.550A>T
ENST00000352993.7:c.803A>T	ENSP00000312236.5:p.Glu268Val
ENST00000357654.7:c.4229A>T	ENSP00000350283.3:p.Glu1410Val
ENST00000461221.5:c.*4012A>T	ENSP00000418548.1:n.*4012A>T
ENST00000461574.1:c.523A>T
ENST00000468300.5:c.920A>T	ENSP00000417148.1:p.Glu307Val
ENST00000471181.6:c.4229A>T	ENSP00000418960.2:p.Glu1410Val
ENST00000478531.5:c.917A>T	ENSP00000420412.1:p.Glu306Val
ENST00000484087.5:c.542A>T	ENSP00000419481.1:p.Glu181Val
ENST00000487825.5:c.545A>T	ENSP00000418212.1:p.Glu182Val
ENST00000491747.6:c.920A>T	ENSP00000420705.2:p.Glu307Val
ENST00000493795.5:c.4088A>T	ENSP00000418775.1:p.Glu1363Val
ENST00000493919.5:c.779A>T	ENSP00000418819.1:p.Glu260Val
ENST00000586385.5:c.5-18581A>T	ENSP00000465818.1:n.5-18581A>T
ENST00000591534.5:c.-43-8011A>T	ENSP00000467329.1:n.-43-8011A>T
ENST00000591849.5:c.-98-32342A>T	ENSP00000465347.1:n.-98-32342A>T
ENST00000621897.1:n.123A>T
NM_007294.3:c.4229A>T , LRG_292t1:c.4229A>T	NP_009225.1:p.Glu1410Val
NM_007297.3:c.4088A>T	NP_009228.2:p.Glu1363Val
NM_007298.3:c.920A>T	NP_009229.2:p.Glu307Val
NM_007299.3:c.920A>T	NP_009230.2:p.Glu307Val
NM_007300.3:c.4229A>T	NP_009231.2:p.Glu1410Val
NR_027676.1:n.4365A>T
NM_007294.4:c.4229A>T MANE Select	NP_009225.1:p.Glu1410Val
NM_007297.4:c.4088A>T	NP_009228.2:p.Glu1363Val
NM_007299.4:c.920A>T	NP_009230.2:p.Glu307Val
NM_007300.4:c.4229A>T	NP_009231.2:p.Glu1410Val
NR_027676.2:n.4406A>T