Canonical Allele Identifier: CA10592668

Gene: BRCA1

Linked Data

• dbSNP Id: rs2154064943
• MyVariant Identifiers: chr17:g.41228556T>A (hg19) ; chr17:g.43076539T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076539T>A , CM000679.2:g.43076539T>A	GRCh38
NC_000017.10:g.41228556T>A , CM000679.1:g.41228556T>A	GRCh37
NC_000017.9:g.38482082T>A	NCBI36
NG_005905.2:g.141445A>T , LRG_292:g.141445A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4430A>T	ENSP00000417241.2:p.Glu1477Val
ENST00000470026.6:c.4433A>T	ENSP00000419274.2:p.Glu1478Val
ENST00000473961.6:c.4307A>T	ENSP00000420201.2:p.Glu1436Val
ENST00000476777.6:c.4427A>T	ENSP00000417554.2:p.Glu1476Val
ENST00000477152.6:c.4355A>T	ENSP00000419988.2:p.Glu1452Val
ENST00000478531.6:c.1121A>T	ENSP00000420412.2:p.Glu374Val
ENST00000489037.2:c.4355A>T	ENSP00000420781.2:p.Glu1452Val
ENST00000493919.6:c.983A>T	ENSP00000418819.2:p.Glu328Val
ENST00000494123.6:c.4433A>T	ENSP00000419103.2:p.Glu1478Val
ENST00000497488.2:c.3545A>T	ENSP00000418986.2:p.Glu1182Val
ENST00000618469.2:c.4433A>T	ENSP00000478114.2:p.Glu1478Val
ENST00000634433.2:c.4310A>T	ENSP00000489431.2:p.Glu1437Val
ENST00000644379.2:c.4499A>T	ENSP00000496570.2:p.Glu1500Val
ENST00000644555.2:c.983A>T	ENSP00000494614.2:p.Glu328Val
ENST00000652672.2:c.4292A>T	ENSP00000498906.2:p.Glu1431Val
ENST00000484087.6:c.995A>T	ENSP00000419481.2:p.Glu332Val
ENST00000700182.1:c.1040A>T	ENSP00000514849.1:p.Glu347Val
ENST00000357654.9:c.4433A>T MANE Select	ENSP00000350283.3:p.Glu1478Val
ENST00000471181.7:c.4496A>T	ENSP00000418960.2:p.Glu1499Val
ENST00000644379.1:c.820A>T
ENST00000352993.7:c.1007A>T	ENSP00000312236.5:p.Glu336Val
ENST00000357654.7:c.4433A>T	ENSP00000350283.3:p.Glu1478Val
ENST00000461221.5:c.*4216A>T	ENSP00000418548.1:n.*4216A>T
ENST00000461574.1:c.724A>T
ENST00000468300.5:c.1121A>T	ENSP00000417148.1:p.Glu374Val
ENST00000471181.6:c.4496A>T	ENSP00000418960.2:p.Glu1499Val
ENST00000478531.5:c.1121A>T	ENSP00000420412.1:p.Glu374Val
ENST00000484087.5:c.746A>T	ENSP00000419481.1:p.Glu249Val
ENST00000487825.5:c.749A>T	ENSP00000418212.1:p.Glu250Val
ENST00000491747.6:c.1121A>T	ENSP00000420705.2:p.Glu374Val
ENST00000493795.5:c.4292A>T	ENSP00000418775.1:p.Glu1431Val
ENST00000493919.5:c.983A>T	ENSP00000418819.1:p.Glu328Val
ENST00000586385.5:c.5-12588A>T	ENSP00000465818.1:n.5-12588A>T
ENST00000591534.5:c.-43-2018A>T	ENSP00000467329.1:n.-43-2018A>T
ENST00000591849.5:c.-98-26349A>T	ENSP00000465347.1:n.-98-26349A>T
ENST00000621897.1:n.324A>T
NM_007294.3:c.4433A>T , LRG_292t1:c.4433A>T	NP_009225.1:p.Glu1478Val
NM_007297.3:c.4292A>T	NP_009228.2:p.Glu1431Val
NM_007298.3:c.1121A>T	NP_009229.2:p.Glu374Val
NM_007299.3:c.1121A>T	NP_009230.2:p.Glu374Val
NM_007300.3:c.4496A>T	NP_009231.2:p.Glu1499Val
NR_027676.1:n.4569A>T
NM_007294.4:c.4433A>T MANE Select	NP_009225.1:p.Glu1478Val
NM_007297.4:c.4292A>T	NP_009228.2:p.Glu1431Val
NM_007299.4:c.1121A>T	NP_009230.2:p.Glu374Val
NM_007300.4:c.4496A>T	NP_009231.2:p.Glu1499Val
NR_027676.2:n.4610A>T