Canonical Allele Identifier: CA432639821

Gene: COLQ

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15456005G>A , CM000665.2:g.15456005G>A	GRCh38
NC_000003.11:g.15497512G>A , CM000665.1:g.15497512G>A	GRCh37
NC_000003.10:g.15472516G>A	NCBI36
NG_009032.1:g.70747C>T
NG_009032.2:g.70747C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005677.4:c.1089C>T MANE Select	NP_005668.2:p.Tyr363=
ENST00000383788.10:c.1089C>T MANE Select	ENSP00000373298.3:p.Tyr363=
NM_005677.3:c.1089C>T	NP_005668.2:p.Tyr363=
NM_080538.2:c.1059C>T	NP_536799.1:p.Tyr353=
NM_080539.3:c.987C>T	NP_536800.2:p.Tyr329=
NM_080539.4:c.987C>T	NP_536800.2:p.Tyr329=
ENST00000383781.8:c.1059C>T	ENSP00000373291.3:p.Tyr353=
ENST00000383786.9:c.987C>T	ENSP00000373296.3:p.Tyr329=
ENST00000383788.9:c.1089C>T	ENSP00000373298.3:p.Tyr363=
ENST00000603808.5:c.1089C>T	ENSP00000474271.1:p.Tyr363=
ENST00000604401.2:n.945C>T
ENST00000679838.1:c.*851C>T	ENSP00000505708.1:n.*851C>T
ENST00000680240.1:n.1001C>T
ENST00000680545.1:n.855C>T
ENST00000681097.1:c.*103C>T	ENSP00000505397.1:n.*103C>T
ENST00000681222.1:n.4580C>T