Canonical Allele Identifier: CA1347589260

Gene: COLQ

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470609A= , CM000665.2:g.15470609A=	GRCh38
NC_000003.11:g.15512116A= , CM000665.1:g.15512116A=	GRCh37
NC_000003.10:g.15487120A=	NCBI36
NG_009032.1:g.56143T=
NG_009032.2:g.56143T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.644T= MANE Select	ENSP00000373298.3:p.Met215=
ENST00000604401.2:n.640T=
ENST00000679838.1:c.*406T=	ENSP00000505708.1:n.*406T=
ENST00000680545.1:n.410T=
ENST00000681097.1:c.644T=	ENSP00000505397.1:p.Met215=
ENST00000383781.8:c.614T=	ENSP00000373291.3:p.Met205=
ENST00000383786.9:c.542T=	ENSP00000373296.3:p.Met181=
ENST00000383788.9:c.644T=	ENSP00000373298.3:p.Met215=
ENST00000603808.5:c.644T=	ENSP00000474271.1:p.Met215=
ENST00000605797.1:c.473T=	ENSP00000474936.1:p.Met158=
NM_005677.3:c.644T=	NP_005668.2:p.Met215=
NM_080538.2:c.614T=	NP_536799.1:p.Met205=
NM_080539.3:c.542T=	NP_536800.2:p.Met181=
NM_005677.4:c.644T= MANE Select	NP_005668.2:p.Met215=
NM_080539.4:c.542T=	NP_536800.2:p.Met181=