Canonical Allele Identifier: CA241212

Gene: COG5

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107230691T>C , CM000669.2:g.107230691T>C	GRCh38
NC_000007.13:g.106871136T>C , CM000669.1:g.106871136T>C	GRCh37
NC_000007.12:g.106658372T>C	NCBI36
NG_028095.1:g.338824A>G
NG_028095.2:g.338824A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006348.5:c.2092A>G MANE Select	NP_006339.4:p.Met698Val
ENST00000297135.9:c.2092A>G MANE Select	ENSP00000297135.4:p.Met698Val
NM_001161520.1:c.2185A>G	NP_001154992.1:p.Met729Val
NM_001161520.2:c.2092A>G	NP_001154992.2:p.Met698Val
NM_001379511.1:c.1930A>G	NP_001366440.1:p.Met644Val
NM_001379512.1:c.1918A>G	NP_001366441.1:p.Met640Val
NM_001379513.1:c.2092A>G	NP_001366442.1:p.Met698Val
NM_001379514.1:c.1853+17705A>G	NP_001366443.1:n.1853+17705A>G
NM_001379515.1:c.1522A>G	NP_001366444.1:p.Met508Val
NM_001379516.1:c.1378A>G	NP_001366445.1:p.Met460Val
NM_006348.3:c.2185A>G	NP_006339.3:p.Met729Val
NM_006348.4:c.2092A>G	NP_006339.4:p.Met698Val
NM_181733.2:c.2122A>G	NP_859422.2:p.Met708Val
NM_181733.3:c.2029A>G	NP_859422.3:p.Met677Val
NM_181733.4:c.2029A>G	NP_859422.3:p.Met677Val
ENST00000297135.7:c.2185A>G	ENSP00000297135.3:p.Met729Val
ENST00000347053.7:c.2122A>G	ENSP00000334703.2:p.Met708Val
ENST00000347053.8:c.2029A>G	ENSP00000334703.3:p.Met677Val
ENST00000393603.6:c.2185A>G	ENSP00000377228.2:p.Met729Val
ENST00000393603.7:c.2092A>G	ENSP00000377228.3:p.Met698Val
ENST00000464542.5:n.543A>G
XR_927847.1:n.485-3391T>C