Canonical Allele Identifier: CA1347587469

Gene: COLQ

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15466346G= , CM000665.2:g.15466346G=	GRCh38
NC_000003.11:g.15507853G= , CM000665.1:g.15507853G=	GRCh37
NC_000003.10:g.15482857G=	NCBI36
NG_009032.1:g.60406C=
NG_009032.2:g.60406C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000383788.10:c.809C= MANE Select	ENSP00000373298.3:p.Pro270=
ENST00000604401.2:n.805C=
ENST00000679838.1:c.*571C=	ENSP00000505708.1:n.*571C=
ENST00000680545.1:n.575C=
ENST00000681097.1:c.809C=	ENSP00000505397.1:p.Pro270=
ENST00000383781.8:c.779C=	ENSP00000373291.3:p.Pro260=
ENST00000383786.9:c.707C=	ENSP00000373296.3:p.Pro236=
ENST00000383788.9:c.809C=	ENSP00000373298.3:p.Pro270=
ENST00000603808.5:c.809C=	ENSP00000474271.1:p.Pro270=
NM_005677.3:c.809C=	NP_005668.2:p.Pro270=
NM_080538.2:c.779C=	NP_536799.1:p.Pro260=
NM_080539.3:c.707C=	NP_536800.2:p.Pro236=
NM_005677.4:c.809C= MANE Select	NP_005668.2:p.Pro270=
NM_080539.4:c.707C=	NP_536800.2:p.Pro236=