Canonical Allele Identifier: CA1347592971

Gene: COLQ

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15478995A= , CM000665.2:g.15478995A=	GRCh38
NC_000003.11:g.15520502A= , CM000665.1:g.15520502A=	GRCh37
NC_000003.10:g.15495506A=	NCBI36
NG_009032.1:g.47757T=
NG_009032.2:g.47757T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.375T= MANE Select	ENSP00000373298.3:p.Leu125=
ENST00000679838.1:c.*137T=	ENSP00000505708.1:n.*137T=
ENST00000681097.1:c.375T=	ENSP00000505397.1:p.Leu125=
ENST00000383781.8:c.345T=	ENSP00000373291.3:p.Leu115=
ENST00000383786.9:c.273T=	ENSP00000373296.3:p.Leu91=
ENST00000383788.9:c.375T=	ENSP00000373298.3:p.Leu125=
ENST00000603469.1:n.46T=
ENST00000603808.5:c.375T=	ENSP00000474271.1:p.Leu125=
ENST00000605797.1:c.204T=	ENSP00000474936.1:p.Leu68=
NM_005677.3:c.375T=	NP_005668.2:p.Leu125=
NM_080538.2:c.345T=	NP_536799.1:p.Leu115=
NM_080539.3:c.273T=	NP_536800.2:p.Leu91=
NM_005677.4:c.375T= MANE Select	NP_005668.2:p.Leu125=
NM_080539.4:c.273T=	NP_536800.2:p.Leu91=