Canonical Allele Identifier: CA4430658

Gene: COG5

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107211221G>A , CM000669.2:g.107211221G>A	GRCh38
NC_000007.13:g.106851666G>A , CM000669.1:g.106851666G>A	GRCh37
NC_000007.12:g.106638902G>A	NCBI36
NG_028095.1:g.358294C>T
NG_028095.2:g.358294C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006348.5:c.2173C>T MANE Select	NP_006339.4:p.Leu725=
ENST00000297135.9:c.2173C>T MANE Select	ENSP00000297135.4:p.Leu725=
NM_001161520.1:c.2266C>T	NP_001154992.1:p.Leu756=
NM_001161520.2:c.2173C>T	NP_001154992.2:p.Leu725=
NM_001379511.1:c.2011C>T	NP_001366440.1:p.Leu671=
NM_001379512.1:c.1999C>T	NP_001366441.1:p.Leu667=
NM_001379513.1:c.2169-7591C>T	NP_001366442.1:n.2169-7591C>T
NM_001379514.1:c.1858C>T	NP_001366443.1:p.Leu620=
NM_001379515.1:c.1603C>T	NP_001366444.1:p.Leu535=
NM_001379516.1:c.1459C>T	NP_001366445.1:p.Leu487=
NM_006348.3:c.2266C>T	NP_006339.3:p.Leu756=
NM_006348.4:c.2173C>T	NP_006339.4:p.Leu725=
NM_181733.2:c.2203C>T	NP_859422.2:p.Leu735=
NM_181733.3:c.2110C>T	NP_859422.3:p.Leu704=
NM_181733.4:c.2110C>T	NP_859422.3:p.Leu704=
ENST00000297135.7:c.2266C>T	ENSP00000297135.3:p.Leu756=
ENST00000347053.7:c.2203C>T	ENSP00000334703.2:p.Leu735=
ENST00000347053.8:c.2110C>T	ENSP00000334703.3:p.Leu704=
ENST00000393603.6:c.2266C>T	ENSP00000377228.2:p.Leu756=
ENST00000393603.7:c.2173C>T	ENSP00000377228.3:p.Leu725=
ENST00000464542.5:n.624C>T