Canonical Allele Identifier: CA396580629

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70517781G>T (hg19) ; chr16:g.70483878G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483878G>T , CM000678.2:g.70483878G>T	GRCh38
NC_000016.9:g.70517781G>T , CM000678.1:g.70517781G>T	GRCh37
NC_000016.8:g.69075282G>T	NCBI36
NG_027529.1:g.44677C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000534772.2:c.*1878C>A	ENSP00000461912.2:n.*1878C>A
ENST00000703106.1:c.1847C>A	ENSP00000515173.1:n.1847C>A
ENST00000703107.1:c.*1731C>A	ENSP00000515174.1:n.*1731C>A
ENST00000703108.1:c.*250C>A	ENSP00000515175.1:n.*250C>A
ENST00000703109.1:c.1835C>A	ENSP00000515176.1:p.Ser612Tyr
ENST00000703110.1:c.*1304C>A	ENSP00000515177.1:n.*1304C>A
ENST00000703111.1:n.1809C>A
ENST00000703112.1:n.2575C>A
ENST00000703113.1:c.*1215C>A	ENSP00000515178.1:n.*1215C>A
ENST00000703114.1:c.*451C>A	ENSP00000515179.1:n.*451C>A
ENST00000703115.1:c.915C>A	ENSP00000515180.1:n.915C>A
ENST00000323786.10:c.1802C>A MANE Select	ENSP00000315775.5:p.Ser601Tyr
ENST00000564415.6:c.*1582C>A	ENSP00000456653.2:n.*1582C>A
ENST00000674443.1:c.1727C>A	ENSP00000501405.1:p.Ser576Tyr
ENST00000323786.9:c.1802C>A	ENSP00000315775.5:p.Ser601Tyr
ENST00000393612.8:c.1739C>A	ENSP00000377236.5:p.Ser580Tyr
ENST00000482252.5:c.1949C>A	ENSP00000432802.1:n.1949C>A
ENST00000526700.5:n.978C>A
ENST00000530314.5:n.2481C>A
ENST00000564315.1:n.262C>A
ENST00000564415.5:c.*1582C>A	ENSP00000456653.1:n.*1582C>A
NM_001195139.1:c.1739C>A	NP_001182068.1:p.Ser580Tyr
NM_015386.2:c.1802C>A	NP_056201.2:p.Ser601Tyr
XM_011522981.1:c.1376C>A	XP_011521283.1:p.Ser459Tyr
XR_933266.1:n.1748C>A
XR_933267.1:n.1748C>A
XM_011522981.3:c.1376C>A	XP_011521283.1:p.Ser459Tyr
XM_024450224.1:c.821C>A	XP_024305992.1:p.Ser274Tyr
XR_001751889.1:n.1685C>A
XR_933266.2:n.1748C>A
NM_015386.3:c.1802C>A MANE Select	NP_056201.2:p.Ser601Tyr
NM_001195139.2:c.1727C>A	NP_001182068.2:p.Ser576Tyr
NM_001365426.1:c.1376C>A	NP_001352355.1:p.Ser459Tyr
NR_158212.1:n.1761C>A