Canonical Allele Identifier: CA358374452

Gene: PABPC4L

Linked Data

• MyVariant Identifiers: chr4:g.135121474A>C (hg19) ; chr4:g.134200319A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.134200319A>C , CM000666.2:g.134200319A>C	GRCh38
NC_000004.11:g.135121474A>C , CM000666.1:g.135121474A>C	GRCh37
NC_000004.10:g.135340924A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000421491.4:c.701T>G MANE Select	ENSP00000463233.1:p.Phe234Cys
ENST00000421491.3:c.701T>G	ENSP00000463233.1:p.Phe234Cys
NM_001114734.1:c.875T>G	NP_001108206.2:p.Phe292Cys
NM_001114734.2:c.701T>G MANE Select	NP_001108206.3:p.Phe234Cys
NM_001363585.1:c.701T>G	NP_001350514.1:p.Phe234Cys
XR_001741133.1:n.1240T>G
XR_001741134.1:n.1240T>G
XR_001741135.1:n.1240T>G
XR_001741136.1:n.1240T>G
XR_001741137.1:n.1240T>G
XR_001741138.1:n.1240T>G
XR_001741139.1:n.1235T>G