Canonical Allele Identifier: CA1347592968

Gene: COLQ

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15478990C= , CM000665.2:g.15478990C=	GRCh38
NC_000003.11:g.15520497C= , CM000665.1:g.15520497C=	GRCh37
NC_000003.10:g.15495501C=	NCBI36
NG_009032.1:g.47762G=
NG_009032.2:g.47762G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.380G= MANE Select	ENSP00000373298.3:p.Arg127=
ENST00000679838.1:c.*142G=	ENSP00000505708.1:n.*142G=
ENST00000681097.1:c.380G=	ENSP00000505397.1:p.Arg127=
ENST00000383781.8:c.350G=	ENSP00000373291.3:p.Arg117=
ENST00000383786.9:c.278G=	ENSP00000373296.3:p.Arg93=
ENST00000383788.9:c.380G=	ENSP00000373298.3:p.Arg127=
ENST00000603469.1:n.51G=
ENST00000603808.5:c.380G=	ENSP00000474271.1:p.Arg127=
ENST00000605797.1:c.209G=	ENSP00000474936.1:p.Arg70=
NM_005677.3:c.380G=	NP_005668.2:p.Arg127=
NM_080538.2:c.350G=	NP_536799.1:p.Arg117=
NM_080539.3:c.278G=	NP_536800.2:p.Arg93=
NM_005677.4:c.380G= MANE Select	NP_005668.2:p.Arg127=
NM_080539.4:c.278G=	NP_536800.2:p.Arg93=