Canonical Allele Identifier: CA358375691

Gene: PABPC4L

Linked Data

• dbSNP Id: rs1174334869
• gnomAD v2: 4-135122014-G-T
• gnomAD v4: 4-134200859-G-T
• MyVariant Identifiers: chr4:g.135122014G>T (hg19) ; chr4:g.134200859G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.134200859G>T , CM000666.2:g.134200859G>T	GRCh38
NC_000004.11:g.135122014G>T , CM000666.1:g.135122014G>T	GRCh37
NC_000004.10:g.135341464G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000421491.4:c.161C>A MANE Select	ENSP00000463233.1:p.Ala54Asp
ENST00000421491.3:c.161C>A	ENSP00000463233.1:p.Ala54Asp
NM_001114734.1:c.335C>A	NP_001108206.2:p.Ala112Asp
NM_001114734.2:c.161C>A MANE Select	NP_001108206.3:p.Ala54Asp
NM_001363585.1:c.161C>A	NP_001350514.1:p.Ala54Asp
XR_001741133.1:n.700C>A
XR_001741134.1:n.700C>A
XR_001741135.1:n.700C>A
XR_001741136.1:n.700C>A
XR_001741137.1:n.700C>A
XR_001741138.1:n.700C>A
XR_001741139.1:n.695C>A