Canonical Allele Identifier: CA2296588
Community Standard Title: NM_015141.4(GPD1L):c.232A>G (p.Met78Val)
Gene: GPD1L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.32138593A>G , CM000665.2:g.32138593A>G GRCh38
NC_000003.11:g.32180085A>G , CM000665.1:g.32180085A>G GRCh37
NC_000003.10:g.32155089A>G NCBI36
NG_023375.1:g.37083A>G , LRG_419:g.37083A>G

Transcript Alleles

HGVS Amino-acid Change
NM_015141.4:c.232A>G MANE Select NP_055956.1:p.Met78Val
ENST00000282541.10:c.232A>G MANE Select ENSP00000282541.6:p.Met78Val
NM_015141.3:c.232A>G , LRG_419t1:c.232A>G NP_055956.1:p.Met78Val
ENST00000282541.9:c.232A>G ENSP00000282541.5:p.Met78Val
ENST00000425459.5:c.226-1635A>G ENSP00000408770.1:n.226-1635A>G
ENST00000428684.1:c.54A>G ENSP00000392199.1:p.Pro18=
ENST00000429432.5:c.115A>G ENSP00000393861.1:p.Met39Val
ENST00000431009.1:c.115A>G ENSP00000416518.1:p.Met39Val
XM_005264983.2:c.232A>G XP_005265040.1:p.Met78Val
XM_006713068.2:c.226-1635A>G XP_006713131.1:n.226-1635A>G