Canonical Allele Identifier: CA3081043
Gene: PABPC4L HGNC NCBI

Linked Data

ClinVar Variation Id: 2330161
ClinVar RCV Id: RCV004176658
dbSNP Id: rs764605454
ExAC: 4:135121484 C / A
gnomAD v2: 4-135121484-C-A
gnomAD v4: 4-134200329-C-A
MyVariant Identifiers: chr4:g.135121484C>A (hg19) chr4:g.134200329C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.134200329C>A , CM000666.2:g.134200329C>A GRCh38
NC_000004.11:g.135121484C>A , CM000666.1:g.135121484C>A GRCh37
NC_000004.10:g.135340934C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000421491.4:c.691G>T MANE Select ENSP00000463233.1:p.Gly231Cys
ENST00000421491.3:c.691G>T ENSP00000463233.1:p.Gly231Cys
NM_001114734.1:c.865G>T NP_001108206.2:p.Gly289Cys
NM_001114734.2:c.691G>T MANE Select NP_001108206.3:p.Gly231Cys
NM_001363585.1:c.691G>T NP_001350514.1:p.Gly231Cys
XR_001741133.1:n.1230G>T
XR_001741134.1:n.1230G>T
XR_001741135.1:n.1230G>T
XR_001741136.1:n.1230G>T
XR_001741137.1:n.1230G>T
XR_001741138.1:n.1230G>T
XR_001741139.1:n.1225G>T
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