Canonical Allele Identifier: CA351596115

Gene: COLQ

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15455897A>G , CM000665.2:g.15455897A>G	GRCh38
NC_000003.11:g.15497404A>G , CM000665.1:g.15497404A>G	GRCh37
NC_000003.10:g.15472408A>G	NCBI36
NG_009032.1:g.70855T>C
NG_009032.2:g.70855T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005677.4:c.1195+2T>C MANE Select	NP_005668.2:n.1195+2T>C
ENST00000383788.10:c.1195+2T>C MANE Select	ENSP00000373298.3:n.1195+2T>C
NM_005677.3:c.1195+2T>C	NP_005668.2:n.1195+2T>C
NM_080538.2:c.1165+2T>C	NP_536799.1:n.1165+2T>C
NM_080539.3:c.1093+2T>C	NP_536800.2:n.1093+2T>C
NM_080539.4:c.1093+2T>C	NP_536800.2:n.1093+2T>C
ENST00000383781.8:c.1165+2T>C	ENSP00000373291.3:n.1165+2T>C
ENST00000383786.9:c.1093+2T>C	ENSP00000373296.3:n.1093+2T>C
ENST00000383788.9:c.1195+2T>C	ENSP00000373298.3:n.1195+2T>C
ENST00000603808.5:c.1197T>C	ENSP00000474271.1:p.Arg399=
ENST00000604401.2:n.1051+2T>C
ENST00000629729.3:c.42+2T>C	ENSP00000518887.1:n.42+2T>C
ENST00000679838.1:c.*957+2T>C	ENSP00000505708.1:n.*957+2T>C
ENST00000680240.1:n.1107+2T>C
ENST00000680545.1:n.961+2T>C
ENST00000681097.1:c.*209+2T>C	ENSP00000505397.1:n.*209+2T>C
ENST00000681222.1:n.4686+2T>C