Canonical Allele Identifier: CA1347592962

Gene: COLQ

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15478979T= , CM000665.2:g.15478979T=	GRCh38
NC_000003.11:g.15520486T= , CM000665.1:g.15520486T=	GRCh37
NC_000003.10:g.15495490T=	NCBI36
NG_009032.1:g.47773A=
NG_009032.2:g.47773A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000383788.10:c.391A= MANE Select	ENSP00000373298.3:p.Lys131=
ENST00000679838.1:c.*153A=	ENSP00000505708.1:n.*153A=
ENST00000681097.1:c.391A=	ENSP00000505397.1:p.Lys131=
ENST00000383781.8:c.361A=	ENSP00000373291.3:p.Lys121=
ENST00000383786.9:c.289A=	ENSP00000373296.3:p.Lys97=
ENST00000383788.9:c.391A=	ENSP00000373298.3:p.Lys131=
ENST00000603469.1:n.62A=
ENST00000603808.5:c.391A=	ENSP00000474271.1:p.Lys131=
ENST00000605797.1:c.220A=	ENSP00000474936.1:p.Lys74=
NM_005677.3:c.391A=	NP_005668.2:p.Lys131=
NM_080538.2:c.361A=	NP_536799.1:p.Lys121=
NM_080539.3:c.289A=	NP_536800.2:p.Lys97=
NM_005677.4:c.391A= MANE Select	NP_005668.2:p.Lys131=
NM_080539.4:c.289A=	NP_536800.2:p.Lys97=