Canonical Allele Identifier: CA10582149
Gene: GPD1L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.32138606G>T , CM000665.2:g.32138606G>T GRCh38
NC_000003.11:g.32180098G>T , CM000665.1:g.32180098G>T GRCh37
NC_000003.10:g.32155102G>T NCBI36
NG_023375.1:g.37096G>T , LRG_419:g.37096G>T

Transcript Alleles

HGVS Amino-acid Change
NM_015141.4:c.245G>T MANE Select NP_055956.1:p.Ser82Ile
ENST00000282541.10:c.245G>T MANE Select ENSP00000282541.6:p.Ser82Ile
NM_015141.3:c.245G>T , LRG_419t1:c.245G>T NP_055956.1:p.Ser82Ile
ENST00000282541.9:c.245G>T ENSP00000282541.5:p.Ser82Ile
ENST00000425459.5:c.226-1622G>T ENSP00000408770.1:n.226-1622G>T
ENST00000428684.1:c.67G>T ENSP00000392199.1:p.Ala23Ser
ENST00000429432.5:c.128G>T ENSP00000393861.1:p.Ser43Ile
ENST00000431009.1:c.128G>T ENSP00000416518.1:p.Ser43Ile
XM_005264983.2:c.245G>T XP_005265040.1:p.Ser82Ile
XM_006713068.2:c.226-1622G>T XP_006713131.1:n.226-1622G>T