Canonical Allele Identifier: CA351974160

Gene: GPD1L

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.32138608G>C , CM000665.2:g.32138608G>C	GRCh38
NC_000003.11:g.32180100G>C , CM000665.1:g.32180100G>C	GRCh37
NC_000003.10:g.32155104G>C	NCBI36
NG_023375.1:g.37098G>C , LRG_419:g.37098G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282541.10:c.247G>C MANE Select	ENSP00000282541.6:p.Glu83Gln
ENST00000282541.9:c.247G>C	ENSP00000282541.5:p.Glu83Gln
ENST00000425459.5:c.226-1620G>C	ENSP00000408770.1:n.226-1620G>C
ENST00000428684.1:c.69G>C	ENSP00000392199.1:p.Ala23=
ENST00000429432.5:c.130G>C	ENSP00000393861.1:p.Glu44Gln
ENST00000431009.1:c.130G>C	ENSP00000416518.1:p.Glu44Gln
NM_015141.3:c.247G>C , LRG_419t1:c.247G>C	NP_055956.1:p.Glu83Gln
XM_005264983.2:c.247G>C	XP_005265040.1:p.Glu83Gln
XM_006713068.2:c.226-1620G>C	XP_006713131.1:n.226-1620G>C
NM_015141.4:c.247G>C MANE Select	NP_055956.1:p.Glu83Gln