Canonical Allele Identifier: CA339832
Gene: GPD1L HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.32138608G>A
GRCh37 chr3:g.32180100G>A
Revel Score:
ENST00000429432 0.259
ENST00000282541 (MANE Select) 0.259
ENST00000431009 0.259
gnomAD v2:
3:32180100 G / A
gnomAD v3:
3:32138608 G / A
gnomAD v4:
chr3-32138608-G-A
Joint Max Group AF 0.00022548 (MID)
Genomes Max Group AF 0.0002148 (AMR)
Exomes Max Group AF 0.00023619 (MID)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000282541.10:c.247G>A MANE Select ENSP00000282541.6:p.Glu83Lys
ENST00000282541.9:c.247G>A ENSP00000282541.5:p.Glu83Lys
ENST00000425459.5:c.226-1620G>A ENSP00000408770.1:n.226-1620G>A
ENST00000428684.1:c.69G>A ENSP00000392199.1:p.Ala23=
ENST00000429432.5:c.130G>A ENSP00000393861.1:p.Glu44Lys
ENST00000431009.1:c.130G>A ENSP00000416518.1:p.Glu44Lys
NM_015141.3:c.247G>A , LRG_419t1:c.247G>A NP_055956.1:p.Glu83Lys
XM_005264983.2:c.247G>A XP_005265040.1:p.Glu83Lys
XM_006713068.2:c.226-1620G>A XP_006713131.1:n.226-1620G>A
NM_015141.4:c.247G>A MANE Select NP_055956.1:p.Glu83Lys
Search 100 bp 5'
Search 100 bp 3'