Canonical Allele Identifier: CA504192682
Gene: NEDD4L HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.55833064T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.58165832T>C , CM000680.2:g.58165832T>C GRCh38
NC_000018.9:g.55833064T>C , CM000680.1:g.55833064T>C GRCh37
NC_000018.8:g.53984062T>C NCBI36
NG_029954.1:g.126455T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000400345.8:c.93T>C MANE Select ENSP00000383199.2:p.Asp31=
ENST00000585594.6:n.70T>C
ENST00000674613.1:n.98-79595T>C
ENST00000674845.1:c.*599T>C ENSP00000502309.1:n.*599T>C
ENST00000675137.1:n.215T>C
ENST00000675147.1:c.72T>C ENSP00000501840.1:p.Asp24=
ENST00000675502.1:c.-271T>C ENSP00000502428.1:n.-271T>C
ENST00000675801.1:c.-271T>C ENSP00000502688.1:n.-271T>C
ENST00000676024.1:c.93T>C ENSP00000502105.1:p.Asp31=
ENST00000676223.1:c.54T>C ENSP00000502361.1:p.Asp18=
ENST00000256830.13:c.93T>C ENSP00000256830.8:p.Asp31=
ENST00000356462.10:c.93T>C ENSP00000348847.5:p.Asp31=
ENST00000357895.9:c.69T>C ENSP00000350569.4:p.Asp23=
ENST00000382850.8:c.93T>C ENSP00000372301.3:p.Asp31=
ENST00000400345.7:c.93T>C ENSP00000383199.2:p.Asp31=
ENST00000435432.6:c.-349T>C ENSP00000393395.1:n.-349T>C
ENST00000456986.5:c.-271T>C ENSP00000411947.1:n.-271T>C
ENST00000585363.5:n.130T>C
ENST00000585594.5:n.213T>C
ENST00000586263.5:c.69T>C ENSP00000468546.1:p.Asp23=
ENST00000587547.1:n.882T>C
ENST00000588516.5:n.1193T>C
ENST00000589054.5:c.48+121124T>C ENSP00000465669.1:n.48+121124T>C
ENST00000590694.5:n.136T>C
ENST00000591579.5:n.137T>C
ENST00000591989.5:n.141T>C
ENST00000592846.5:c.-330T>C ENSP00000466776.1:n.-330T>C
NM_001144964.1:c.-271T>C NP_001138436.1:n.-271T>C
NM_001144965.1:c.-271T>C NP_001138437.1:n.-271T>C
NM_001144967.2:c.93T>C NP_001138439.1:p.Asp31=
NM_001144968.1:c.69T>C NP_001138440.1:p.Asp23=
NM_001144969.1:c.69T>C NP_001138441.1:p.Asp23=
NM_001144971.1:c.-349T>C NP_001138443.1:n.-349T>C
NM_001243960.1:c.93T>C NP_001230889.1:p.Asp31=
NM_015277.5:c.93T>C NP_056092.2:p.Asp31=
XM_006722426.2:c.93T>C XP_006722489.1:p.Asp31=
XM_006722428.2:c.93T>C XP_006722491.1:p.Asp31=
XM_011525887.1:c.69T>C XP_011524189.1:p.Asp23=
XM_006722426.4:c.93T>C XP_006722489.1:p.Asp31=
XM_006722428.4:c.93T>C XP_006722491.1:p.Asp31=
XM_011525887.3:c.69T>C XP_011524189.1:p.Asp23=
XM_017025678.2:c.93T>C XP_016881167.1:p.Asp31=
XM_024451129.1:c.-349T>C XP_024306897.1:n.-349T>C
XM_024451131.1:c.-271T>C XP_024306899.1:n.-271T>C
XM_024451134.1:c.-330T>C XP_024306902.1:n.-330T>C
XM_024451135.1:c.-271T>C XP_024306903.1:n.-271T>C
XM_024451136.1:c.-271T>C XP_024306904.1:n.-271T>C
XM_024451137.1:c.-349T>C XP_024306905.1:n.-349T>C
NM_001144967.3:c.93T>C MANE Select NP_001138439.1:p.Asp31=
NM_001144965.2:c.-271T>C NP_001138437.1:n.-271T>C
NM_001144968.2:c.69T>C NP_001138440.1:p.Asp23=
NM_001144969.2:c.69T>C NP_001138441.1:p.Asp23=
NM_001144971.2:c.-349T>C NP_001138443.1:n.-349T>C
NM_001243960.2:c.93T>C NP_001230889.1:p.Asp31=
NM_015277.6:c.93T>C NP_056092.2:p.Asp31=