Canonical Allele Identifier: CA2296652
Community Standard Title: NM_015141.4(GPD1L):c.475G>A (p.Ala159Thr)
Gene: GPD1L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.32140336G>A , CM000665.2:g.32140336G>A GRCh38
NC_000003.11:g.32181828G>A , CM000665.1:g.32181828G>A GRCh37
NC_000003.10:g.32156832G>A NCBI36
NG_023375.1:g.38826G>A , LRG_419:g.38826G>A

Transcript Alleles

HGVS Amino-acid Change
NM_015141.4:c.475G>A MANE Select NP_055956.1:p.Ala159Thr
ENST00000282541.10:c.475G>A MANE Select ENSP00000282541.6:p.Ala159Thr
NM_015141.3:c.475G>A , LRG_419t1:c.475G>A NP_055956.1:p.Ala159Thr
ENST00000282541.9:c.475G>A ENSP00000282541.5:p.Ala159Thr
ENST00000425459.5:c.334G>A ENSP00000408770.1:p.Ala112Thr
ENST00000428684.1:c.*102G>A ENSP00000392199.1:n.*102G>A
ENST00000429432.5:c.358G>A ENSP00000393861.1:p.Ala120Thr
ENST00000431009.1:c.358G>A ENSP00000416518.1:p.Ala120Thr
XM_005264983.2:c.475G>A XP_005265040.1:p.Ala159Thr
XM_006713068.2:c.334G>A XP_006713131.1:p.Ala112Thr