Canonical Allele Identifier: CA378161885
Gene: CWF19L1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.100238149T>A , CM000672.2:g.100238149T>A GRCh38
NC_000010.10:g.101997906T>A , CM000672.1:g.101997906T>A GRCh37
NC_000010.9:g.101987896T>A NCBI36
NG_041811.1:g.34533A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000354105.10:c.1127A>T MANE Select ENSP00000326411.6:p.Glu376Val
ENST00000354105.8:c.1127A>T ENSP00000326411.6:p.Glu376Val
ENST00000370379.1:c.392A>T ENSP00000359405.1:p.Glu131Val
ENST00000468709.5:n.983A>T
ENST00000478047.1:n.1282A>T
ENST00000482452.5:n.810A>T
NM_001303404.1:c.1127A>T NP_001290333.1:p.Glu376Val
NM_001303405.1:c.716A>T NP_001290334.1:p.Glu239Val
NM_001303406.1:c.716A>T NP_001290335.1:p.Glu239Val
NM_001303407.1:c.392A>T NP_001290336.1:p.Glu131Val
NM_018294.5:c.1127A>T NP_060764.3:p.Glu376Val
NM_018294.6:c.1127A>T MANE Select NP_060764.3:p.Glu376Val
NM_001303404.2:c.1127A>T NP_001290333.1:p.Glu376Val
NM_001303405.2:c.716A>T NP_001290334.1:p.Glu239Val
NM_001303406.2:c.716A>T NP_001290335.1:p.Glu239Val
NM_001303407.2:c.392A>T NP_001290336.1:p.Glu131Val