Canonical Allele Identifier: CA432647203

Gene: COLQ

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15489579C>A , CM000665.2:g.15489579C>A	GRCh38
NC_000003.11:g.15531086C>A , CM000665.1:g.15531086C>A	GRCh37
NC_000003.10:g.15506090C>A	NCBI36
NG_009032.1:g.37173G>T
NG_009032.2:g.37173G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005677.4:c.165G>T MANE Select	NP_005668.2:p.Thr55=
ENST00000383788.10:c.165G>T MANE Select	ENSP00000373298.3:p.Thr55=
NM_005677.3:c.165G>T	NP_005668.2:p.Thr55=
NM_080538.2:c.135G>T	NP_536799.1:p.Thr45=
NM_080539.3:c.165G>T	NP_536800.2:p.Thr55=
NM_080539.4:c.165G>T	NP_536800.2:p.Thr55=
ENST00000383781.8:c.135G>T	ENSP00000373291.3:p.Thr45=
ENST00000383786.9:c.165G>T	ENSP00000373296.3:p.Thr55=
ENST00000383788.9:c.165G>T	ENSP00000373298.3:p.Thr55=
ENST00000603808.5:c.165G>T	ENSP00000474271.1:p.Thr55=
ENST00000605797.1:c.96G>T	ENSP00000474936.1:p.Thr32=
ENST00000679838.1:c.165G>T	ENSP00000505708.1:p.Thr55=
ENST00000681097.1:c.165G>T	ENSP00000505397.1:p.Thr55=