Canonical Allele Identifier: CA1347587472

Gene: COLQ

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15466349G= , CM000665.2:g.15466349G=	GRCh38
NC_000003.11:g.15507856G= , CM000665.1:g.15507856G=	GRCh37
NC_000003.10:g.15482860G=	NCBI36
NG_009032.1:g.60403C=
NG_009032.2:g.60403C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000383788.10:c.806C= MANE Select	ENSP00000373298.3:p.Pro269=
ENST00000604401.2:n.802C=
ENST00000679838.1:c.*568C=	ENSP00000505708.1:n.*568C=
ENST00000680545.1:n.572C=
ENST00000681097.1:c.806C=	ENSP00000505397.1:p.Pro269=
ENST00000383781.8:c.776C=	ENSP00000373291.3:p.Pro259=
ENST00000383786.9:c.704C=	ENSP00000373296.3:p.Pro235=
ENST00000383788.9:c.806C=	ENSP00000373298.3:p.Pro269=
ENST00000603808.5:c.806C=	ENSP00000474271.1:p.Pro269=
NM_005677.3:c.806C=	NP_005668.2:p.Pro269=
NM_080538.2:c.776C=	NP_536799.1:p.Pro259=
NM_080539.3:c.704C=	NP_536800.2:p.Pro235=
NM_005677.4:c.806C= MANE Select	NP_005668.2:p.Pro269=
NM_080539.4:c.704C=	NP_536800.2:p.Pro235=