Canonical Allele Identifier: CA358375679

Gene: PABPC4L

Linked Data

• dbSNP Id: rs1729844333
• gnomAD v4: 4-134200854-C-T
• MyVariant Identifiers: chr4:g.135122009C>T (hg19) ; chr4:g.134200854C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.134200854C>T , CM000666.2:g.134200854C>T	GRCh38
NC_000004.11:g.135122009C>T , CM000666.1:g.135122009C>T	GRCh37
NC_000004.10:g.135341459C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000421491.4:c.166G>A MANE Select	ENSP00000463233.1:p.Val56Met
ENST00000421491.3:c.166G>A	ENSP00000463233.1:p.Val56Met
NM_001114734.1:c.340G>A	NP_001108206.2:p.Val114Met
NM_001114734.2:c.166G>A MANE Select	NP_001108206.3:p.Val56Met
NM_001363585.1:c.166G>A	NP_001350514.1:p.Val56Met
XR_001741133.1:n.705G>A
XR_001741134.1:n.705G>A
XR_001741135.1:n.705G>A
XR_001741136.1:n.705G>A
XR_001741137.1:n.705G>A
XR_001741138.1:n.705G>A
XR_001741139.1:n.700G>A