Canonical Allele Identifier: CA1347589258

Gene: COLQ

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470602T= , CM000665.2:g.15470602T=	GRCh38
NC_000003.11:g.15512109T= , CM000665.1:g.15512109T=	GRCh37
NC_000003.10:g.15487113T=	NCBI36
NG_009032.1:g.56150A=
NG_009032.2:g.56150A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.651A= MANE Select	ENSP00000373298.3:p.Pro217=
ENST00000604401.2:n.647A=
ENST00000679838.1:c.*413A=	ENSP00000505708.1:n.*413A=
ENST00000680545.1:n.417A=
ENST00000681097.1:c.651A=	ENSP00000505397.1:p.Pro217=
ENST00000383781.8:c.621A=	ENSP00000373291.3:p.Pro207=
ENST00000383786.9:c.549A=	ENSP00000373296.3:p.Pro183=
ENST00000383788.9:c.651A=	ENSP00000373298.3:p.Pro217=
ENST00000603808.5:c.651A=	ENSP00000474271.1:p.Pro217=
ENST00000605797.1:c.480A=	ENSP00000474936.1:p.Pro160=
NM_005677.3:c.651A=	NP_005668.2:p.Pro217=
NM_080538.2:c.621A=	NP_536799.1:p.Pro207=
NM_080539.3:c.549A=	NP_536800.2:p.Pro183=
NM_005677.4:c.651A= MANE Select	NP_005668.2:p.Pro217=
NM_080539.4:c.549A=	NP_536800.2:p.Pro183=