Canonical Allele Identifier: CA395120270

Gene: COG7

Linked Data

• MyVariant Identifiers: chr16:g.23428432T>A (hg19) ; chr16:g.23417111T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23417111T>A , CM000678.2:g.23417111T>A	GRCh38
NC_000016.9:g.23428432T>A , CM000678.1:g.23428432T>A	GRCh37
NC_000016.8:g.23335933T>A	NCBI36
NG_021287.1:g.41081A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307149.10:c.1148A>T MANE Select	ENSP00000305442.5:p.Glu383Val
ENST00000307149.9:c.1148A>T	ENSP00000305442.5:p.Glu383Val
ENST00000567821.1:n.183A>T
NM_153603.3:c.1148A>T	NP_705831.1:p.Glu383Val
XR_429680.1:n.1364A>T
XM_017023870.1:c.953A>T	XP_016879359.1:p.Glu318Val
XR_002957852.1:n.1369A>T
XR_429680.2:n.1369A>T
NM_153603.4:c.1148A>T MANE Select	NP_705831.1:p.Glu383Val