Canonical Allele Identifier: CA3081049
Gene: PABPC4L HGNC NCBI

Linked Data

ClinVar Variation Id: 2465056
ClinVar RCV Id: RCV004258175
dbSNP Id: rs547997386
ExAC: 4:135121526 G / C
gnomAD v2: 4-135121526-G-C
gnomAD v3: 4-134200371-G-C
gnomAD v4: 4-134200371-G-C
MyVariant Identifiers: chr4:g.135121526G>C (hg19) chr4:g.134200371G>C (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000421491.4:c.649C>G MANE Select ENSP00000463233.1:p.Leu217Val
ENST00000421491.3:c.649C>G ENSP00000463233.1:p.Leu217Val
NM_001114734.1:c.823C>G NP_001108206.2:p.Leu275Val
NM_001114734.2:c.649C>G MANE Select NP_001108206.3:p.Leu217Val
NM_001363585.1:c.649C>G NP_001350514.1:p.Leu217Val
XR_001741133.1:n.1188C>G
XR_001741134.1:n.1188C>G
XR_001741135.1:n.1188C>G
XR_001741136.1:n.1188C>G
XR_001741137.1:n.1188C>G
XR_001741138.1:n.1188C>G
XR_001741139.1:n.1183C>G
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