Canonical Allele Identifier: CA2276020

Gene: COLQ

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470547G>A , CM000665.2:g.15470547G>A	GRCh38
NC_000003.11:g.15512054G>A , CM000665.1:g.15512054G>A	GRCh37
NC_000003.10:g.15487058G>A	NCBI36
NG_009032.1:g.56205C>T
NG_009032.2:g.56205C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005677.4:c.706C>T MANE Select	NP_005668.2:p.Arg236Ter
ENST00000383788.10:c.706C>T MANE Select	ENSP00000373298.3:p.Arg236Ter
NM_005677.3:c.706C>T	NP_005668.2:p.Arg236Ter
NM_080538.2:c.676C>T	NP_536799.1:p.Arg226Ter
NM_080539.3:c.604C>T	NP_536800.2:p.Arg202Ter
NM_080539.4:c.604C>T	NP_536800.2:p.Arg202Ter
ENST00000383781.8:c.676C>T	ENSP00000373291.3:p.Arg226Ter
ENST00000383786.9:c.604C>T	ENSP00000373296.3:p.Arg202Ter
ENST00000383788.9:c.706C>T	ENSP00000373298.3:p.Arg236Ter
ENST00000603808.5:c.706C>T	ENSP00000474271.1:p.Arg236Ter
ENST00000604401.2:n.702C>T
ENST00000605797.1:c.535C>T	ENSP00000474936.1:p.Arg179Ter
ENST00000679838.1:c.*468C>T	ENSP00000505708.1:n.*468C>T
ENST00000680545.1:n.472C>T
ENST00000681097.1:c.706C>T	ENSP00000505397.1:p.Arg236Ter