Canonical Allele Identifier: CA441362132

Gene: PABPC4L

Linked Data

• gnomAD v4: 4-134200879-G-T
• MyVariant Identifiers: chr4:g.135122034G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.134200879G>T , CM000666.2:g.134200879G>T	GRCh38
NC_000004.11:g.135122034G>T , CM000666.1:g.135122034G>T	GRCh37
NC_000004.10:g.135341484G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000421491.4:c.141C>A MANE Select	ENSP00000463233.1:p.Thr47=
ENST00000421491.3:c.141C>A	ENSP00000463233.1:p.Thr47=
NM_001114734.1:c.315C>A	NP_001108206.2:p.Thr105=
NM_001114734.2:c.141C>A MANE Select	NP_001108206.3:p.Thr47=
NM_001363585.1:c.141C>A	NP_001350514.1:p.Thr47=
XR_001741133.1:n.680C>A
XR_001741134.1:n.680C>A
XR_001741135.1:n.680C>A
XR_001741136.1:n.680C>A
XR_001741137.1:n.680C>A
XR_001741138.1:n.680C>A
XR_001741139.1:n.675C>A