Canonical Allele Identifier: CA106325775

Gene: PABPC4L

Linked Data

• dbSNP Id: rs961705310
• gnomAD v3: 4-134200523-T-G
• gnomAD v4: 4-134200523-T-G
• MyVariant Identifiers: chr4:g.135121678T>G (hg19) ; chr4:g.134200523T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.134200523T>G , CM000666.2:g.134200523T>G	GRCh38
NC_000004.11:g.135121678T>G , CM000666.1:g.135121678T>G	GRCh37
NC_000004.10:g.135341128T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000421491.4:c.497A>C MANE Select	ENSP00000463233.1:p.Lys166Thr
ENST00000421491.3:c.497A>C	ENSP00000463233.1:p.Lys166Thr
NM_001114734.1:c.671A>C	NP_001108206.2:p.Lys224Thr
NM_001114734.2:c.497A>C MANE Select	NP_001108206.3:p.Lys166Thr
NM_001363585.1:c.497A>C	NP_001350514.1:p.Lys166Thr
XR_001741133.1:n.1036A>C
XR_001741134.1:n.1036A>C
XR_001741135.1:n.1036A>C
XR_001741136.1:n.1036A>C
XR_001741137.1:n.1036A>C
XR_001741138.1:n.1036A>C
XR_001741139.1:n.1031A>C