Canonical Allele Identifier: CA164681657

Gene: COG5

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107230634G>A , CM000669.2:g.107230634G>A	GRCh38
NC_000007.13:g.106871079G>A , CM000669.1:g.106871079G>A	GRCh37
NC_000007.12:g.106658315G>A	NCBI36
NG_028095.1:g.338881C>T
NG_028095.2:g.338881C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006348.5:c.2149C>T MANE Select	NP_006339.4:p.Arg717Trp
ENST00000297135.9:c.2149C>T MANE Select	ENSP00000297135.4:p.Arg717Trp
NM_001161520.1:c.2242C>T	NP_001154992.1:p.Arg748Trp
NM_001161520.2:c.2149C>T	NP_001154992.2:p.Arg717Trp
NM_001379511.1:c.1987C>T	NP_001366440.1:p.Arg663Trp
NM_001379512.1:c.1975C>T	NP_001366441.1:p.Arg659Trp
NM_001379513.1:c.2149C>T	NP_001366442.1:p.Arg717Trp
NM_001379514.1:c.1853+17762C>T	NP_001366443.1:n.1853+17762C>T
NM_001379515.1:c.1579C>T	NP_001366444.1:p.Arg527Trp
NM_001379516.1:c.1435C>T	NP_001366445.1:p.Arg479Trp
NM_006348.3:c.2242C>T	NP_006339.3:p.Arg748Trp
NM_006348.4:c.2149C>T	NP_006339.4:p.Arg717Trp
NM_181733.2:c.2179C>T	NP_859422.2:p.Arg727Trp
NM_181733.3:c.2086C>T	NP_859422.3:p.Arg696Trp
NM_181733.4:c.2086C>T	NP_859422.3:p.Arg696Trp
ENST00000297135.7:c.2242C>T	ENSP00000297135.3:p.Arg748Trp
ENST00000347053.7:c.2179C>T	ENSP00000334703.2:p.Arg727Trp
ENST00000347053.8:c.2086C>T	ENSP00000334703.3:p.Arg696Trp
ENST00000393603.6:c.2242C>T	ENSP00000377228.2:p.Arg748Trp
ENST00000393603.7:c.2149C>T	ENSP00000377228.3:p.Arg717Trp
ENST00000464542.5:n.600C>T
XR_927847.1:n.485-3448G>A