Canonical Allele Identifier: CA457175696

Gene: COG5

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107230685A>G , CM000669.2:g.107230685A>G	GRCh38
NC_000007.13:g.106871130A>G , CM000669.1:g.106871130A>G	GRCh37
NC_000007.12:g.106658366A>G	NCBI36
NG_028095.1:g.338830T>C
NG_028095.2:g.338830T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297135.9:c.2098T>C MANE Select	ENSP00000297135.4:p.Leu700=
ENST00000347053.8:c.2035T>C	ENSP00000334703.3:p.Leu679=
ENST00000393603.7:c.2098T>C	ENSP00000377228.3:p.Leu700=
ENST00000297135.7:c.2191T>C	ENSP00000297135.3:p.Leu731=
ENST00000347053.7:c.2128T>C	ENSP00000334703.2:p.Leu710=
ENST00000393603.6:c.2191T>C	ENSP00000377228.2:p.Leu731=
ENST00000464542.5:n.549T>C
NM_001161520.1:c.2191T>C	NP_001154992.1:p.Leu731=
NM_006348.3:c.2191T>C	NP_006339.3:p.Leu731=
NM_181733.2:c.2128T>C	NP_859422.2:p.Leu710=
XR_927847.1:n.485-3397A>G
NM_001161520.2:c.2098T>C	NP_001154992.2:p.Leu700=
NM_006348.4:c.2098T>C	NP_006339.4:p.Leu700=
NM_181733.3:c.2035T>C	NP_859422.3:p.Leu679=
NM_001379511.1:c.1936T>C	NP_001366440.1:p.Leu646=
NM_001379512.1:c.1924T>C	NP_001366441.1:p.Leu642=
NM_001379513.1:c.2098T>C	NP_001366442.1:p.Leu700=
NM_001379514.1:c.1853+17711T>C	NP_001366443.1:n.1853+17711T>C
NM_001379515.1:c.1528T>C	NP_001366444.1:p.Leu510=
NM_001379516.1:c.1384T>C	NP_001366445.1:p.Leu462=
NM_006348.5:c.2098T>C MANE Select	NP_006339.4:p.Leu700=
NM_181733.4:c.2035T>C	NP_859422.3:p.Leu679=