Canonical Allele Identifier: CA70616089

Gene: COLQ

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15474254C>T , CM000665.2:g.15474254C>T	GRCh38
NC_000003.11:g.15515761C>T , CM000665.1:g.15515761C>T	GRCh37
NC_000003.10:g.15490765C>T	NCBI36
NG_009032.1:g.52498G>A
NG_009032.2:g.52498G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005677.4:c.574G>A MANE Select	NP_005668.2:p.Gly192Ser
ENST00000383788.10:c.574G>A MANE Select	ENSP00000373298.3:p.Gly192Ser
NM_005677.3:c.574G>A	NP_005668.2:p.Gly192Ser
NM_080538.2:c.544G>A	NP_536799.1:p.Gly182Ser
NM_080539.3:c.472G>A	NP_536800.2:p.Gly158Ser
NM_080539.4:c.472G>A	NP_536800.2:p.Gly158Ser
ENST00000383781.8:c.544G>A	ENSP00000373291.3:p.Gly182Ser
ENST00000383786.9:c.472G>A	ENSP00000373296.3:p.Gly158Ser
ENST00000383788.9:c.574G>A	ENSP00000373298.3:p.Gly192Ser
ENST00000603808.5:c.574G>A	ENSP00000474271.1:p.Gly192Ser
ENST00000604401.2:n.570G>A
ENST00000605797.1:c.403G>A	ENSP00000474936.1:p.Gly135Ser
ENST00000679838.1:c.*336G>A	ENSP00000505708.1:n.*336G>A
ENST00000680545.1:n.340G>A
ENST00000681097.1:c.574G>A	ENSP00000505397.1:p.Gly192Ser