Canonical Allele Identifier: CA4430596

Gene: COG5

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107210541C>A , CM000669.2:g.107210541C>A	GRCh38
NC_000007.13:g.106850986C>A , CM000669.1:g.106850986C>A	GRCh37
NC_000007.12:g.106638222C>A	NCBI36
NG_028095.1:g.358974G>T
NG_028095.2:g.358974G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006348.5:c.2360G>T MANE Select	NP_006339.4:p.Arg787Met
ENST00000297135.9:c.2360G>T MANE Select	ENSP00000297135.4:p.Arg787Met
NM_001161520.1:c.2453G>T	NP_001154992.1:p.Arg818Met
NM_001161520.2:c.2360G>T	NP_001154992.2:p.Arg787Met
NM_001379511.1:c.2198G>T	NP_001366440.1:p.Arg733Met
NM_001379512.1:c.2186G>T	NP_001366441.1:p.Arg729Met
NM_001379513.1:c.2169-6911G>T	NP_001366442.1:n.2169-6911G>T
NM_001379514.1:c.2045G>T	NP_001366443.1:p.Arg682Met
NM_001379515.1:c.1790G>T	NP_001366444.1:p.Arg597Met
NM_001379516.1:c.1646G>T	NP_001366445.1:p.Arg549Met
NM_006348.3:c.2453G>T	NP_006339.3:p.Arg818Met
NM_006348.4:c.2360G>T	NP_006339.4:p.Arg787Met
NM_181733.2:c.2390G>T	NP_859422.2:p.Arg797Met
NM_181733.3:c.2297G>T	NP_859422.3:p.Arg766Met
NM_181733.4:c.2297G>T	NP_859422.3:p.Arg766Met
ENST00000297135.7:c.2453G>T	ENSP00000297135.3:p.Arg818Met
ENST00000347053.7:c.2390G>T	ENSP00000334703.2:p.Arg797Met
ENST00000347053.8:c.2297G>T	ENSP00000334703.3:p.Arg766Met
ENST00000393603.6:c.2453G>T	ENSP00000377228.2:p.Arg818Met
ENST00000393603.7:c.2360G>T	ENSP00000377228.3:p.Arg787Met
ENST00000464542.5:n.811G>T