Canonical Allele Identifier: CA358374568
Gene: PABPC4L HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.134200371G>T , CM000666.2:g.134200371G>T GRCh38
NC_000004.11:g.135121526G>T , CM000666.1:g.135121526G>T GRCh37
NC_000004.10:g.135340976G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000421491.4:c.649C>A MANE Select ENSP00000463233.1:p.Leu217Met
ENST00000421491.3:c.649C>A ENSP00000463233.1:p.Leu217Met
NM_001114734.1:c.823C>A NP_001108206.2:p.Leu275Met
NM_001114734.2:c.649C>A MANE Select NP_001108206.3:p.Leu217Met
NM_001363585.1:c.649C>A NP_001350514.1:p.Leu217Met
XR_001741133.1:n.1188C>A
XR_001741134.1:n.1188C>A
XR_001741135.1:n.1188C>A
XR_001741136.1:n.1188C>A
XR_001741137.1:n.1188C>A
XR_001741138.1:n.1188C>A
XR_001741139.1:n.1183C>A