Canonical Allele Identifier: CA1347592927

Gene: COLQ

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15478919T= , CM000665.2:g.15478919T=	GRCh38
NC_000003.11:g.15520426T= , CM000665.1:g.15520426T=	GRCh37
NC_000003.10:g.15495430T=	NCBI36
NG_009032.1:g.47833A=
NG_009032.2:g.47833A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.393+58A= MANE Select	ENSP00000373298.3:n.393+58A=
ENST00000679838.1:c.*155+58A=	ENSP00000505708.1:n.*155+58A=
ENST00000681097.1:c.393+58A=	ENSP00000505397.1:n.393+58A=
ENST00000383781.8:c.363+58A=	ENSP00000373291.3:n.363+58A=
ENST00000383786.9:c.291+58A=	ENSP00000373296.3:n.291+58A=
ENST00000383788.9:c.393+58A=	ENSP00000373298.3:n.393+58A=
ENST00000603469.1:n.83+39A=
ENST00000603808.5:c.393+58A=	ENSP00000474271.1:n.393+58A=
ENST00000605797.1:c.222+58A=	ENSP00000474936.1:n.222+58A=
NM_005677.3:c.393+58A=	NP_005668.2:n.393+58A=
NM_080538.2:c.363+58A=	NP_536799.1:n.363+58A=
NM_080539.3:c.291+58A=	NP_536800.2:n.291+58A=
NM_005677.4:c.393+58A= MANE Select	NP_005668.2:n.393+58A=
NM_080539.4:c.291+58A=	NP_536800.2:n.291+58A=