Canonical Allele Identifier: CA1347589255

Gene: COLQ

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470597C= , CM000665.2:g.15470597C=	GRCh38
NC_000003.11:g.15512104C= , CM000665.1:g.15512104C=	GRCh37
NC_000003.10:g.15487108C=	NCBI36
NG_009032.1:g.56155G=
NG_009032.2:g.56155G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.656G= MANE Select	ENSP00000373298.3:p.Gly219=
ENST00000604401.2:n.652G=
ENST00000679838.1:c.*418G=	ENSP00000505708.1:n.*418G=
ENST00000680545.1:n.422G=
ENST00000681097.1:c.656G=	ENSP00000505397.1:p.Gly219=
ENST00000383781.8:c.626G=	ENSP00000373291.3:p.Gly209=
ENST00000383786.9:c.554G=	ENSP00000373296.3:p.Gly185=
ENST00000383788.9:c.656G=	ENSP00000373298.3:p.Gly219=
ENST00000603808.5:c.656G=	ENSP00000474271.1:p.Gly219=
ENST00000605797.1:c.485G=	ENSP00000474936.1:p.Gly162=
NM_005677.3:c.656G=	NP_005668.2:p.Gly219=
NM_080538.2:c.626G=	NP_536799.1:p.Gly209=
NM_080539.3:c.554G=	NP_536800.2:p.Gly185=
NM_005677.4:c.656G= MANE Select	NP_005668.2:p.Gly219=
NM_080539.4:c.554G=	NP_536800.2:p.Gly185=