Canonical Allele Identifier: CA351599527

Gene: COLQ

Linked Data

• MyVariant Identifiers: chr3:g.15520492C>T (hg19) ; chr3:g.15478985C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15478985C>T , CM000665.2:g.15478985C>T	GRCh38
NC_000003.11:g.15520492C>T , CM000665.1:g.15520492C>T	GRCh37
NC_000003.10:g.15495496C>T	NCBI36
NG_009032.1:g.47767G>A
NG_009032.2:g.47767G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000383788.10:c.385G>A MANE Select	ENSP00000373298.3:p.Gly129Arg
ENST00000679838.1:c.*147G>A	ENSP00000505708.1:n.*147G>A
ENST00000681097.1:c.385G>A	ENSP00000505397.1:p.Gly129Arg
ENST00000383781.8:c.355G>A	ENSP00000373291.3:p.Gly119Arg
ENST00000383786.9:c.283G>A	ENSP00000373296.3:p.Gly95Arg
ENST00000383788.9:c.385G>A	ENSP00000373298.3:p.Gly129Arg
ENST00000603469.1:n.56G>A
ENST00000603808.5:c.385G>A	ENSP00000474271.1:p.Gly129Arg
ENST00000605797.1:c.214G>A	ENSP00000474936.1:p.Gly72Arg
NM_005677.3:c.385G>A	NP_005668.2:p.Gly129Arg
NM_080538.2:c.355G>A	NP_536799.1:p.Gly119Arg
NM_080539.3:c.283G>A	NP_536800.2:p.Gly95Arg
NM_005677.4:c.385G>A MANE Select	NP_005668.2:p.Gly129Arg
NM_080539.4:c.283G>A	NP_536800.2:p.Gly95Arg