Canonical Allele Identifier: CA1347587465

Gene: COLQ

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15466343G= , CM000665.2:g.15466343G=	GRCh38
NC_000003.11:g.15507850G= , CM000665.1:g.15507850G=	GRCh37
NC_000003.10:g.15482854G=	NCBI36
NG_009032.1:g.60409C=
NG_009032.2:g.60409C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000383788.10:c.812C= MANE Select	ENSP00000373298.3:p.Ala271=
ENST00000604401.2:n.808C=
ENST00000679838.1:c.*574C=	ENSP00000505708.1:n.*574C=
ENST00000680545.1:n.578C=
ENST00000681097.1:c.812C=	ENSP00000505397.1:p.Ala271=
ENST00000383781.8:c.782C=	ENSP00000373291.3:p.Ala261=
ENST00000383786.9:c.710C=	ENSP00000373296.3:p.Ala237=
ENST00000383788.9:c.812C=	ENSP00000373298.3:p.Ala271=
ENST00000603808.5:c.812C=	ENSP00000474271.1:p.Ala271=
NM_005677.3:c.812C=	NP_005668.2:p.Ala271=
NM_080538.2:c.782C=	NP_536799.1:p.Ala261=
NM_080539.3:c.710C=	NP_536800.2:p.Ala237=
NM_005677.4:c.812C= MANE Select	NP_005668.2:p.Ala271=
NM_080539.4:c.710C=	NP_536800.2:p.Ala237=