Canonical Allele Identifier: CA4430717

Gene: COG5

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107236493A>G , CM000669.2:g.107236493A>G	GRCh38
NC_000007.13:g.106876938A>G , CM000669.1:g.106876938A>G	GRCh37
NC_000007.12:g.106664174A>G	NCBI36
NG_028095.1:g.333022T>C
NG_028095.2:g.333022T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006348.5:c.2048T>C MANE Select	NP_006339.4:p.Leu683Pro
ENST00000297135.9:c.2048T>C MANE Select	ENSP00000297135.4:p.Leu683Pro
NM_001161520.1:c.2141T>C	NP_001154992.1:p.Leu714Pro
NM_001161520.2:c.2048T>C	NP_001154992.2:p.Leu683Pro
NM_001379511.1:c.1886T>C	NP_001366440.1:p.Leu629Pro
NM_001379512.1:c.1874T>C	NP_001366441.1:p.Leu625Pro
NM_001379513.1:c.2048T>C	NP_001366442.1:p.Leu683Pro
NM_001379514.1:c.1853+11903T>C	NP_001366443.1:n.1853+11903T>C
NM_001379515.1:c.1478T>C	NP_001366444.1:p.Leu493Pro
NM_001379516.1:c.1334T>C	NP_001366445.1:p.Leu445Pro
NM_006348.3:c.2141T>C	NP_006339.3:p.Leu714Pro
NM_006348.4:c.2048T>C	NP_006339.4:p.Leu683Pro
NM_181733.2:c.2078T>C	NP_859422.2:p.Leu693Pro
NM_181733.3:c.1985T>C	NP_859422.3:p.Leu662Pro
NM_181733.4:c.1985T>C	NP_859422.3:p.Leu662Pro
ENST00000297135.7:c.2141T>C	ENSP00000297135.3:p.Leu714Pro
ENST00000347053.7:c.2078T>C	ENSP00000334703.2:p.Leu693Pro
ENST00000347053.8:c.1985T>C	ENSP00000334703.3:p.Leu662Pro
ENST00000393603.6:c.2141T>C	ENSP00000377228.2:p.Leu714Pro
ENST00000393603.7:c.2048T>C	ENSP00000377228.3:p.Leu683Pro
ENST00000464542.5:n.499T>C