Canonical Allele Identifier: CA1347587470

Gene: COLQ

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15466347G= , CM000665.2:g.15466347G=	GRCh38
NC_000003.11:g.15507854G= , CM000665.1:g.15507854G=	GRCh37
NC_000003.10:g.15482858G=	NCBI36
NG_009032.1:g.60405C=
NG_009032.2:g.60405C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000383788.10:c.808C= MANE Select	ENSP00000373298.3:p.Pro270=
ENST00000604401.2:n.804C=
ENST00000679838.1:c.*570C=	ENSP00000505708.1:n.*570C=
ENST00000680545.1:n.574C=
ENST00000681097.1:c.808C=	ENSP00000505397.1:p.Pro270=
ENST00000383781.8:c.778C=	ENSP00000373291.3:p.Pro260=
ENST00000383786.9:c.706C=	ENSP00000373296.3:p.Pro236=
ENST00000383788.9:c.808C=	ENSP00000373298.3:p.Pro270=
ENST00000603808.5:c.808C=	ENSP00000474271.1:p.Pro270=
NM_005677.3:c.808C=	NP_005668.2:p.Pro270=
NM_080538.2:c.778C=	NP_536799.1:p.Pro260=
NM_080539.3:c.706C=	NP_536800.2:p.Pro236=
NM_005677.4:c.808C= MANE Select	NP_005668.2:p.Pro270=
NM_080539.4:c.706C=	NP_536800.2:p.Pro236=