Canonical Allele Identifier: CA1347589256

Gene: COLQ

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470599T= , CM000665.2:g.15470599T=	GRCh38
NC_000003.11:g.15512106T= , CM000665.1:g.15512106T=	GRCh37
NC_000003.10:g.15487110T=	NCBI36
NG_009032.1:g.56153A=
NG_009032.2:g.56153A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.654A= MANE Select	ENSP00000373298.3:p.Lys218=
ENST00000604401.2:n.650A=
ENST00000679838.1:c.*416A=	ENSP00000505708.1:n.*416A=
ENST00000680545.1:n.420A=
ENST00000681097.1:c.654A=	ENSP00000505397.1:p.Lys218=
ENST00000383781.8:c.624A=	ENSP00000373291.3:p.Lys208=
ENST00000383786.9:c.552A=	ENSP00000373296.3:p.Lys184=
ENST00000383788.9:c.654A=	ENSP00000373298.3:p.Lys218=
ENST00000603808.5:c.654A=	ENSP00000474271.1:p.Lys218=
ENST00000605797.1:c.483A=	ENSP00000474936.1:p.Lys161=
NM_005677.3:c.654A=	NP_005668.2:p.Lys218=
NM_080538.2:c.624A=	NP_536799.1:p.Lys208=
NM_080539.3:c.552A=	NP_536800.2:p.Lys184=
NM_005677.4:c.654A= MANE Select	NP_005668.2:p.Lys218=
NM_080539.4:c.552A=	NP_536800.2:p.Lys184=