Canonical Allele Identifier: CA1347583628

Gene: COLQ

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15458197G= , CM000665.2:g.15458197G=	GRCh38
NC_000003.11:g.15499704G= , CM000665.1:g.15499704G=	GRCh37
NC_000003.10:g.15474708G=	NCBI36
NG_009032.1:g.68555C=
NG_009032.2:g.68555C=

Transcript Alleles

HGVS	Amino-acid Change
NM_005677.4:c.943C= MANE Select	NP_005668.2:p.Arg315=
ENST00000383788.10:c.943C= MANE Select	ENSP00000373298.3:p.Arg315=
NM_005677.3:c.943C=	NP_005668.2:p.Arg315=
NM_080538.2:c.913C=	NP_536799.1:p.Arg305=
NM_080539.3:c.841C=	NP_536800.2:p.Arg281=
NM_080539.4:c.841C=	NP_536800.2:p.Arg281=
ENST00000383781.8:c.913C=	ENSP00000373291.3:p.Arg305=
ENST00000383786.9:c.841C=	ENSP00000373296.3:p.Arg281=
ENST00000383788.9:c.943C=	ENSP00000373298.3:p.Arg315=
ENST00000603808.5:c.943C=	ENSP00000474271.1:p.Arg315=
ENST00000604401.2:n.811-1618C=
ENST00000679838.1:c.*705C=	ENSP00000505708.1:n.*705C=
ENST00000680240.1:n.672C=
ENST00000680545.1:n.709C=
ENST00000681097.1:c.815-1618C=	ENSP00000505397.1:n.815-1618C=
ENST00000681222.1:n.2828C=