Canonical Allele Identifier: CA3081041
Gene: PABPC4L HGNC NCBI

Linked Data

dbSNP Id: rs192522574
ExAC: 4:135121472 C / G
gnomAD v2: 4-135121472-C-G
gnomAD v3: 4-134200317-C-G
gnomAD v4: 4-134200317-C-G
MyVariant Identifiers: chr4:g.135121472C>G (hg19) chr4:g.134200317C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.134200317C>G , CM000666.2:g.134200317C>G GRCh38
NC_000004.11:g.135121472C>G , CM000666.1:g.135121472C>G GRCh37
NC_000004.10:g.135340922C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000421491.4:c.703G>C MANE Select ENSP00000463233.1:p.Val235Leu
ENST00000421491.3:c.703G>C ENSP00000463233.1:p.Val235Leu
NM_001114734.1:c.877G>C NP_001108206.2:p.Val293Leu
NM_001114734.2:c.703G>C MANE Select NP_001108206.3:p.Val235Leu
NM_001363585.1:c.703G>C NP_001350514.1:p.Val235Leu
XR_001741133.1:n.1242G>C
XR_001741134.1:n.1242G>C
XR_001741135.1:n.1242G>C
XR_001741136.1:n.1242G>C
XR_001741137.1:n.1242G>C
XR_001741138.1:n.1242G>C
XR_001741139.1:n.1237G>C
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