Canonical Allele Identifier: CA432928537
Community Standard Title: NM_015141.4(GPD1L):c.180T>C (p.His60=)
Gene: GPD1L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.32128208T>C , CM000665.2:g.32128208T>C GRCh38
NC_000003.11:g.32169700T>C , CM000665.1:g.32169700T>C GRCh37
NC_000003.10:g.32144704T>C NCBI36
NG_023375.1:g.26698T>C , LRG_419:g.26698T>C

Transcript Alleles

HGVS Amino-acid Change
NM_015141.4:c.180T>C MANE Select NP_055956.1:p.His60=
ENST00000282541.10:c.180T>C MANE Select ENSP00000282541.6:p.His60=
NM_015141.3:c.180T>C , LRG_419t1:c.180T>C NP_055956.1:p.His60=
ENST00000282541.9:c.180T>C ENSP00000282541.5:p.His60=
ENST00000425459.5:c.180T>C ENSP00000408770.1:p.His60=
ENST00000428684.1:c.48-10379T>C ENSP00000392199.1:n.48-10379T>C
ENST00000429432.5:c.63T>C ENSP00000393861.1:p.His21=
ENST00000431009.1:c.63T>C ENSP00000416518.1:p.His21=
XM_005264983.2:c.180T>C XP_005265040.1:p.His60=
XM_006713068.2:c.180T>C XP_006713131.1:p.His60=