Canonical Allele Identifier: CA2296646

Gene: GPD1L

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.32140306C>T , CM000665.2:g.32140306C>T	GRCh38
NC_000003.11:g.32181798C>T , CM000665.1:g.32181798C>T	GRCh37
NC_000003.10:g.32156802C>T	NCBI36
NG_023375.1:g.38796C>T , LRG_419:g.38796C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015141.4:c.445C>T MANE Select	NP_055956.1:p.Leu149=
ENST00000282541.10:c.445C>T MANE Select	ENSP00000282541.6:p.Leu149=
NM_015141.3:c.445C>T , LRG_419t1:c.445C>T	NP_055956.1:p.Leu149=
ENST00000282541.9:c.445C>T	ENSP00000282541.5:p.Leu149=
ENST00000425459.5:c.304C>T	ENSP00000408770.1:p.Leu102=
ENST00000428684.1:c.*72C>T	ENSP00000392199.1:n.*72C>T
ENST00000429432.5:c.328C>T	ENSP00000393861.1:p.Leu110=
ENST00000431009.1:c.328C>T	ENSP00000416518.1:p.Leu110=
XM_005264983.2:c.445C>T	XP_005265040.1:p.Leu149=
XM_006713068.2:c.304C>T	XP_006713131.1:p.Leu102=