Canonical Allele Identifier: CA10638260
Community Standard Title: NM_015386.3(COG4):c.1631C>T (p.Ala544Val)
Gene: COG4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.70496282G>A , CM000678.2:g.70496282G>A GRCh38
NC_000016.9:g.70530185G>A , CM000678.1:g.70530185G>A GRCh37
NC_000016.8:g.69087686G>A NCBI36
NG_027529.1:g.32273C>T

Transcript Alleles

HGVS Amino-acid Change
NM_015386.3:c.1631C>T MANE Select NP_056201.2:p.Ala544Val
ENST00000323786.10:c.1631C>T MANE Select ENSP00000315775.5:p.Ala544Val
NM_001195139.1:c.1631C>T NP_001182068.1:p.Ala544Val
NM_001195139.2:c.1619C>T NP_001182068.2:p.Ala540Val
NM_001365426.1:c.1205C>T NP_001352355.1:p.Ala402Val
NM_015386.2:c.1631C>T NP_056201.2:p.Ala544Val
NR_158212.1:n.1590C>T
ENST00000323786.9:c.1631C>T ENSP00000315775.5:p.Ala544Val
ENST00000393612.8:c.1631C>T ENSP00000377236.5:p.Ala544Val
ENST00000482252.5:c.1778C>T ENSP00000432802.1:n.1778C>T
ENST00000526700.5:n.870C>T
ENST00000530314.5:n.2310C>T
ENST00000534772.2:c.*1707C>T ENSP00000461912.2:n.*1707C>T
ENST00000564315.1:n.91C>T
ENST00000564415.5:c.*1411C>T ENSP00000456653.1:n.*1411C>T
ENST00000564415.6:c.*1411C>T ENSP00000456653.2:n.*1411C>T
ENST00000674443.1:c.1619C>T ENSP00000501405.1:p.Ala540Val
ENST00000703106.1:c.1580C>T ENSP00000515173.1:p.Ala527Val
ENST00000703107.1:c.*1560C>T ENSP00000515174.1:n.*1560C>T
ENST00000703108.1:c.*79C>T ENSP00000515175.1:n.*79C>T
ENST00000703109.1:c.1538C>T ENSP00000515176.1:p.Ala513Val
ENST00000703110.1:c.*1196C>T ENSP00000515177.1:n.*1196C>T
ENST00000703111.1:n.1638C>T
ENST00000703112.1:n.2404C>T
ENST00000703113.1:c.*1044C>T ENSP00000515178.1:n.*1044C>T
ENST00000703114.1:c.*280C>T ENSP00000515179.1:n.*280C>T
ENST00000703115.1:c.790-5919C>T ENSP00000515180.1:n.790-5919C>T
XM_011522981.1:c.1205C>T XP_011521283.1:p.Ala402Val
XM_011522981.3:c.1205C>T XP_011521283.1:p.Ala402Val
XM_024450224.1:c.713C>T XP_024305992.1:p.Ala238Val
XR_001751889.1:n.1577C>T
XR_933266.1:n.1577C>T
XR_933266.2:n.1577C>T
XR_933267.1:n.1577C>T