Canonical Allele Identifier: CA441360663
Gene: PABPC4L HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.135121482G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.134200327G>C , CM000666.2:g.134200327G>C GRCh38
NC_000004.11:g.135121482G>C , CM000666.1:g.135121482G>C GRCh37
NC_000004.10:g.135340932G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000421491.4:c.693C>G MANE Select ENSP00000463233.1:p.Gly231=
ENST00000421491.3:c.693C>G ENSP00000463233.1:p.Gly231=
NM_001114734.1:c.867C>G NP_001108206.2:p.Gly289=
NM_001114734.2:c.693C>G MANE Select NP_001108206.3:p.Gly231=
NM_001363585.1:c.693C>G NP_001350514.1:p.Gly231=
XR_001741133.1:n.1232C>G
XR_001741134.1:n.1232C>G
XR_001741135.1:n.1232C>G
XR_001741136.1:n.1232C>G
XR_001741137.1:n.1232C>G
XR_001741138.1:n.1232C>G
XR_001741139.1:n.1227C>G