Canonical Allele Identifier: CA358374541

Gene: PABPC4L

Linked Data

• gnomAD v4: 4-134200359-C-A
• MyVariant Identifiers: chr4:g.135121514C>A (hg19) ; chr4:g.134200359C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.134200359C>A , CM000666.2:g.134200359C>A	GRCh38
NC_000004.11:g.135121514C>A , CM000666.1:g.135121514C>A	GRCh37
NC_000004.10:g.135340964C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000421491.4:c.661G>T MANE Select	ENSP00000463233.1:p.Val221Leu
ENST00000421491.3:c.661G>T	ENSP00000463233.1:p.Val221Leu
NM_001114734.1:c.835G>T	NP_001108206.2:p.Val279Leu
NM_001114734.2:c.661G>T MANE Select	NP_001108206.3:p.Val221Leu
NM_001363585.1:c.661G>T	NP_001350514.1:p.Val221Leu
XR_001741133.1:n.1200G>T
XR_001741134.1:n.1200G>T
XR_001741135.1:n.1200G>T
XR_001741136.1:n.1200G>T
XR_001741137.1:n.1200G>T
XR_001741138.1:n.1200G>T
XR_001741139.1:n.1195G>T