Canonical Allele Identifier: CA2296637
Community Standard Title: NM_015141.4(GPD1L):c.385G>A (p.Glu129Lys)
Gene: GPD1L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.32140246G>A , CM000665.2:g.32140246G>A GRCh38
NC_000003.11:g.32181738G>A , CM000665.1:g.32181738G>A GRCh37
NC_000003.10:g.32156742G>A NCBI36
NG_023375.1:g.38736G>A , LRG_419:g.38736G>A

Transcript Alleles

HGVS Amino-acid Change
NM_015141.4:c.385G>A MANE Select NP_055956.1:p.Glu129Lys
ENST00000282541.10:c.385G>A MANE Select ENSP00000282541.6:p.Glu129Lys
NM_015141.3:c.385G>A , LRG_419t1:c.385G>A NP_055956.1:p.Glu129Lys
ENST00000282541.9:c.385G>A ENSP00000282541.5:p.Glu129Lys
ENST00000425459.5:c.244G>A ENSP00000408770.1:p.Glu82Lys
ENST00000428684.1:c.*12G>A ENSP00000392199.1:n.*12G>A
ENST00000429432.5:c.268G>A ENSP00000393861.1:p.Glu90Lys
ENST00000431009.1:c.268G>A ENSP00000416518.1:p.Glu90Lys
XM_005264983.2:c.385G>A XP_005265040.1:p.Glu129Lys
XM_006713068.2:c.244G>A XP_006713131.1:p.Glu82Lys