Canonical Allele Identifier: CA1347589249

Gene: COLQ

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470583C= , CM000665.2:g.15470583C=	GRCh38
NC_000003.11:g.15512090C= , CM000665.1:g.15512090C=	GRCh37
NC_000003.10:g.15487094C=	NCBI36
NG_009032.1:g.56169G=
NG_009032.2:g.56169G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.670G= MANE Select	ENSP00000373298.3:p.Ala224=
ENST00000604401.2:n.666G=
ENST00000679838.1:c.*432G=	ENSP00000505708.1:n.*432G=
ENST00000680545.1:n.436G=
ENST00000681097.1:c.670G=	ENSP00000505397.1:p.Ala224=
ENST00000383781.8:c.640G=	ENSP00000373291.3:p.Ala214=
ENST00000383786.9:c.568G=	ENSP00000373296.3:p.Ala190=
ENST00000383788.9:c.670G=	ENSP00000373298.3:p.Ala224=
ENST00000603808.5:c.670G=	ENSP00000474271.1:p.Ala224=
ENST00000605797.1:c.499G=	ENSP00000474936.1:p.Ala167=
NM_005677.3:c.670G=	NP_005668.2:p.Ala224=
NM_080538.2:c.640G=	NP_536799.1:p.Ala214=
NM_080539.3:c.568G=	NP_536800.2:p.Ala190=
NM_005677.4:c.670G= MANE Select	NP_005668.2:p.Ala224=
NM_080539.4:c.568G=	NP_536800.2:p.Ala190=