Canonical Allele Identifier: CA2296643

Gene: GPD1L

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.32140277G>A , CM000665.2:g.32140277G>A	GRCh38
NC_000003.11:g.32181769G>A , CM000665.1:g.32181769G>A	GRCh37
NC_000003.10:g.32156773G>A	NCBI36
NG_023375.1:g.38767G>A , LRG_419:g.38767G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015141.4:c.416G>A MANE Select	NP_055956.1:p.Arg139His
ENST00000282541.10:c.416G>A MANE Select	ENSP00000282541.6:p.Arg139His
NM_015141.3:c.416G>A , LRG_419t1:c.416G>A	NP_055956.1:p.Arg139His
ENST00000282541.9:c.416G>A	ENSP00000282541.5:p.Arg139His
ENST00000425459.5:c.275G>A	ENSP00000408770.1:p.Arg92His
ENST00000428684.1:c.*43G>A	ENSP00000392199.1:n.*43G>A
ENST00000429432.5:c.299G>A	ENSP00000393861.1:p.Arg100His
ENST00000431009.1:c.299G>A	ENSP00000416518.1:p.Arg100His
XM_005264983.2:c.416G>A	XP_005265040.1:p.Arg139His
XM_006713068.2:c.275G>A	XP_006713131.1:p.Arg92His