Canonical Allele Identifier: CA4430602

Gene: COG5

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107210574T>C , CM000669.2:g.107210574T>C	GRCh38
NC_000007.13:g.106851019T>C , CM000669.1:g.106851019T>C	GRCh37
NC_000007.12:g.106638255T>C	NCBI36
NG_028095.1:g.358941A>G
NG_028095.2:g.358941A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297135.9:c.2327A>G MANE Select	ENSP00000297135.4:p.Gln776Arg
ENST00000347053.8:c.2264A>G	ENSP00000334703.3:p.Gln755Arg
ENST00000393603.7:c.2327A>G	ENSP00000377228.3:p.Gln776Arg
ENST00000297135.7:c.2420A>G	ENSP00000297135.3:p.Gln807Arg
ENST00000347053.7:c.2357A>G	ENSP00000334703.2:p.Gln786Arg
ENST00000393603.6:c.2420A>G	ENSP00000377228.2:p.Gln807Arg
ENST00000464542.5:n.778A>G
NM_001161520.1:c.2420A>G	NP_001154992.1:p.Gln807Arg
NM_006348.3:c.2420A>G	NP_006339.3:p.Gln807Arg
NM_181733.2:c.2357A>G	NP_859422.2:p.Gln786Arg
NM_001161520.2:c.2327A>G	NP_001154992.2:p.Gln776Arg
NM_006348.4:c.2327A>G	NP_006339.4:p.Gln776Arg
NM_181733.3:c.2264A>G	NP_859422.3:p.Gln755Arg
NM_001379511.1:c.2165A>G	NP_001366440.1:p.Gln722Arg
NM_001379512.1:c.2153A>G	NP_001366441.1:p.Gln718Arg
NM_001379513.1:c.2169-6944A>G	NP_001366442.1:n.2169-6944A>G
NM_001379514.1:c.2012A>G	NP_001366443.1:p.Gln671Arg
NM_001379515.1:c.1757A>G	NP_001366444.1:p.Gln586Arg
NM_001379516.1:c.1613A>G	NP_001366445.1:p.Gln538Arg
NM_006348.5:c.2327A>G MANE Select	NP_006339.4:p.Gln776Arg
NM_181733.4:c.2264A>G	NP_859422.3:p.Gln755Arg