Canonical Allele Identifier: CA441360688

Gene: PABPC4L

Linked Data

• gnomAD v4: 4-134200369-C-A
• MyVariant Identifiers: chr4:g.135121524C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.134200369C>A , CM000666.2:g.134200369C>A	GRCh38
NC_000004.11:g.135121524C>A , CM000666.1:g.135121524C>A	GRCh37
NC_000004.10:g.135340974C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000421491.4:c.651G>T MANE Select	ENSP00000463233.1:p.Leu217=
ENST00000421491.3:c.651G>T	ENSP00000463233.1:p.Leu217=
NM_001114734.1:c.825G>T	NP_001108206.2:p.Leu275=
NM_001114734.2:c.651G>T MANE Select	NP_001108206.3:p.Leu217=
NM_001363585.1:c.651G>T	NP_001350514.1:p.Leu217=
XR_001741133.1:n.1190G>T
XR_001741134.1:n.1190G>T
XR_001741135.1:n.1190G>T
XR_001741136.1:n.1190G>T
XR_001741137.1:n.1190G>T
XR_001741138.1:n.1190G>T
XR_001741139.1:n.1185G>T