Canonical Allele Identifier: CA358374424

Gene: PABPC4L

Linked Data

• dbSNP Id: rs1261851210
• gnomAD v3: 4-134200306-A-C
• gnomAD v4: 4-134200306-A-C
• MyVariant Identifiers: chr4:g.135121461A>C (hg19) ; chr4:g.134200306A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.134200306A>C , CM000666.2:g.134200306A>C	GRCh38
NC_000004.11:g.135121461A>C , CM000666.1:g.135121461A>C	GRCh37
NC_000004.10:g.135340911A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000421491.4:c.714T>G MANE Select	ENSP00000463233.1:p.Asp238Glu
ENST00000421491.3:c.714T>G	ENSP00000463233.1:p.Asp238Glu
NM_001114734.1:c.888T>G	NP_001108206.2:p.Asp296Glu
NM_001114734.2:c.714T>G MANE Select	NP_001108206.3:p.Asp238Glu
NM_001363585.1:c.714T>G	NP_001350514.1:p.Asp238Glu
XR_001741133.1:n.1253T>G
XR_001741134.1:n.1253T>G
XR_001741135.1:n.1253T>G
XR_001741136.1:n.1253T>G
XR_001741137.1:n.1253T>G
XR_001741138.1:n.1253T>G
XR_001741139.1:n.1248T>G