Canonical Allele Identifier: CA441362104

Gene: PABPC4L

Linked Data

• dbSNP Id: rs1176840576
• gnomAD v2: 4-135122001-G-A
• MyVariant Identifiers: chr4:g.135122001G>A (hg19) ; chr4:g.134200846G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.134200846G>A , CM000666.2:g.134200846G>A	GRCh38
NC_000004.11:g.135122001G>A , CM000666.1:g.135122001G>A	GRCh37
NC_000004.10:g.135341451G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000421491.4:c.174C>T MANE Select	ENSP00000463233.1:p.Phe58=
ENST00000421491.3:c.174C>T	ENSP00000463233.1:p.Phe58=
NM_001114734.1:c.348C>T	NP_001108206.2:p.Phe116=
NM_001114734.2:c.174C>T MANE Select	NP_001108206.3:p.Phe58=
NM_001363585.1:c.174C>T	NP_001350514.1:p.Phe58=
XR_001741133.1:n.713C>T
XR_001741134.1:n.713C>T
XR_001741135.1:n.713C>T
XR_001741136.1:n.713C>T
XR_001741137.1:n.713C>T
XR_001741138.1:n.713C>T
XR_001741139.1:n.708C>T