Canonical Allele Identifier: CA1347592973

Gene: COLQ

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15479000C= , CM000665.2:g.15479000C=	GRCh38
NC_000003.11:g.15520507C= , CM000665.1:g.15520507C=	GRCh37
NC_000003.10:g.15495511C=	NCBI36
NG_009032.1:g.47752G=
NG_009032.2:g.47752G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.370G= MANE Select	ENSP00000373298.3:p.Glu124=
ENST00000679838.1:c.*132G=	ENSP00000505708.1:n.*132G=
ENST00000681097.1:c.370G=	ENSP00000505397.1:p.Glu124=
ENST00000383781.8:c.340G=	ENSP00000373291.3:p.Glu114=
ENST00000383786.9:c.268G=	ENSP00000373296.3:p.Glu90=
ENST00000383788.9:c.370G=	ENSP00000373298.3:p.Glu124=
ENST00000603469.1:n.41G=
ENST00000603808.5:c.370G=	ENSP00000474271.1:p.Glu124=
ENST00000605797.1:c.199G=	ENSP00000474936.1:p.Glu67=
NM_005677.3:c.370G=	NP_005668.2:p.Glu124=
NM_080538.2:c.340G=	NP_536799.1:p.Glu114=
NM_080539.3:c.268G=	NP_536800.2:p.Glu90=
NM_005677.4:c.370G= MANE Select	NP_005668.2:p.Glu124=
NM_080539.4:c.268G=	NP_536800.2:p.Glu90=