Canonical Allele Identifier: CA358375572
Gene: PABPC4L HGNC NCBI

Linked Data

ClinVar Variation Id: 3207840
ClinVar RCV Id: RCV004497682
dbSNP Id: rs1293188666
gnomAD v3: 4-134200806-T-C
gnomAD v4: 4-134200806-T-C
MyVariant Identifiers: chr4:g.135121961T>C (hg19) chr4:g.134200806T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.134200806T>C , CM000666.2:g.134200806T>C GRCh38
NC_000004.11:g.135121961T>C , CM000666.1:g.135121961T>C GRCh37
NC_000004.10:g.135341411T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000421491.4:c.214A>G MANE Select ENSP00000463233.1:p.Asn72Asp
ENST00000421491.3:c.214A>G ENSP00000463233.1:p.Asn72Asp
NM_001114734.1:c.388A>G NP_001108206.2:p.Asn130Asp
NM_001114734.2:c.214A>G MANE Select NP_001108206.3:p.Asn72Asp
NM_001363585.1:c.214A>G NP_001350514.1:p.Asn72Asp
XR_001741133.1:n.753A>G
XR_001741134.1:n.753A>G
XR_001741135.1:n.753A>G
XR_001741136.1:n.753A>G
XR_001741137.1:n.753A>G
XR_001741138.1:n.753A>G
XR_001741139.1:n.748A>G
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