Canonical Allele Identifier: CA1347589253

Gene: COLQ

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470591G= , CM000665.2:g.15470591G=	GRCh38
NC_000003.11:g.15512098G= , CM000665.1:g.15512098G=	GRCh37
NC_000003.10:g.15487102G=	NCBI36
NG_009032.1:g.56161C=
NG_009032.2:g.56161C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.662C= MANE Select	ENSP00000373298.3:p.Pro221=
ENST00000604401.2:n.658C=
ENST00000679838.1:c.*424C=	ENSP00000505708.1:n.*424C=
ENST00000680545.1:n.428C=
ENST00000681097.1:c.662C=	ENSP00000505397.1:p.Pro221=
ENST00000383781.8:c.632C=	ENSP00000373291.3:p.Pro211=
ENST00000383786.9:c.560C=	ENSP00000373296.3:p.Pro187=
ENST00000383788.9:c.662C=	ENSP00000373298.3:p.Pro221=
ENST00000603808.5:c.662C=	ENSP00000474271.1:p.Pro221=
ENST00000605797.1:c.491C=	ENSP00000474936.1:p.Pro164=
NM_005677.3:c.662C=	NP_005668.2:p.Pro221=
NM_080538.2:c.632C=	NP_536799.1:p.Pro211=
NM_080539.3:c.560C=	NP_536800.2:p.Pro187=
NM_005677.4:c.662C= MANE Select	NP_005668.2:p.Pro221=
NM_080539.4:c.560C=	NP_536800.2:p.Pro187=