Canonical Allele Identifier: CA70602964

Gene: COLQ

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15458199G>A , CM000665.2:g.15458199G>A	GRCh38
NC_000003.11:g.15499706G>A , CM000665.1:g.15499706G>A	GRCh37
NC_000003.10:g.15474710G>A	NCBI36
NG_009032.1:g.68553C>T
NG_009032.2:g.68553C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005677.4:c.941C>T MANE Select	NP_005668.2:p.Pro314Leu
ENST00000383788.10:c.941C>T MANE Select	ENSP00000373298.3:p.Pro314Leu
NM_005677.3:c.941C>T	NP_005668.2:p.Pro314Leu
NM_080538.2:c.911C>T	NP_536799.1:p.Pro304Leu
NM_080539.3:c.839C>T	NP_536800.2:p.Pro280Leu
NM_080539.4:c.839C>T	NP_536800.2:p.Pro280Leu
ENST00000383781.8:c.911C>T	ENSP00000373291.3:p.Pro304Leu
ENST00000383786.9:c.839C>T	ENSP00000373296.3:p.Pro280Leu
ENST00000383788.9:c.941C>T	ENSP00000373298.3:p.Pro314Leu
ENST00000603808.5:c.941C>T	ENSP00000474271.1:p.Pro314Leu
ENST00000604401.2:n.811-1620C>T
ENST00000679838.1:c.*703C>T	ENSP00000505708.1:n.*703C>T
ENST00000680240.1:n.670C>T
ENST00000680545.1:n.707C>T
ENST00000681097.1:c.815-1620C>T	ENSP00000505397.1:n.815-1620C>T
ENST00000681222.1:n.2826C>T