Canonical Allele Identifier: CA118391

Gene: COLQ

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15475447G>C , CM000665.2:g.15475447G>C	GRCh38
NC_000003.11:g.15516954G>C , CM000665.1:g.15516954G>C	GRCh37
NC_000003.10:g.15491958G>C	NCBI36
NG_009032.1:g.51305C>G
NG_009032.2:g.51305C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005677.4:c.506C>G MANE Select	NP_005668.2:p.Ser169Ter
ENST00000383788.10:c.506C>G MANE Select	ENSP00000373298.3:p.Ser169Ter
NM_005677.3:c.506C>G	NP_005668.2:p.Ser169Ter
NM_080538.2:c.476C>G	NP_536799.1:p.Ser159Ter
NM_080539.3:c.404C>G	NP_536800.2:p.Ser135Ter
NM_080539.4:c.404C>G	NP_536800.2:p.Ser135Ter
ENST00000383781.8:c.476C>G	ENSP00000373291.3:p.Ser159Ter
ENST00000383786.9:c.404C>G	ENSP00000373296.3:p.Ser135Ter
ENST00000383788.9:c.506C>G	ENSP00000373298.3:p.Ser169Ter
ENST00000603808.5:c.506C>G	ENSP00000474271.1:p.Ser169Ter
ENST00000604401.1:n.502C>G
ENST00000604401.2:n.502C>G
ENST00000605797.1:c.335C>G	ENSP00000474936.1:p.Ser112Ter
ENST00000679838.1:c.*268C>G	ENSP00000505708.1:n.*268C>G
ENST00000681097.1:c.506C>G	ENSP00000505397.1:p.Ser169Ter