Canonical Allele Identifier: CA2276389

Gene: COLQ

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15521539G>A , CM000665.2:g.15521539G>A	GRCh38
NC_000003.11:g.15563046G>A , CM000665.1:g.15563046G>A	GRCh37
NC_000003.10:g.15538050G>A	NCBI36
NG_009032.1:g.5213C>T
NG_009032.2:g.5213C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005677.4:c.87C>T MANE Select	NP_005668.2:p.Ser29=
ENST00000383788.10:c.87C>T MANE Select	ENSP00000373298.3:p.Ser29=
NM_005677.3:c.87C>T	NP_005668.2:p.Ser29=
NM_080539.3:c.87C>T	NP_536800.2:p.Ser29=
NM_080539.4:c.87C>T	NP_536800.2:p.Ser29=
ENST00000383786.9:c.87C>T	ENSP00000373296.3:p.Ser29=
ENST00000383788.9:c.87C>T	ENSP00000373298.3:p.Ser29=
ENST00000603808.5:c.87C>T	ENSP00000474271.1:p.Ser29=
ENST00000679838.1:c.87C>T	ENSP00000505708.1:p.Ser29=
ENST00000681097.1:c.87C>T	ENSP00000505397.1:p.Ser29=