Canonical Allele Identifier: CA441360655

Gene: PABPC4L

Linked Data

• gnomAD v4: 4-134200315-C-T
• MyVariant Identifiers: chr4:g.135121470C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.134200315C>T , CM000666.2:g.134200315C>T	GRCh38
NC_000004.11:g.135121470C>T , CM000666.1:g.135121470C>T	GRCh37
NC_000004.10:g.135340920C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000421491.4:c.705G>A MANE Select	ENSP00000463233.1:p.Val235=
ENST00000421491.3:c.705G>A	ENSP00000463233.1:p.Val235=
NM_001114734.1:c.879G>A	NP_001108206.2:p.Val293=
NM_001114734.2:c.705G>A MANE Select	NP_001108206.3:p.Val235=
NM_001363585.1:c.705G>A	NP_001350514.1:p.Val235=
XR_001741133.1:n.1244G>A
XR_001741134.1:n.1244G>A
XR_001741135.1:n.1244G>A
XR_001741136.1:n.1244G>A
XR_001741137.1:n.1244G>A
XR_001741138.1:n.1244G>A
XR_001741139.1:n.1239G>A