Canonical Allele Identifier: CA432642302

Gene: COLQ

Linked Data

• MyVariant Identifiers: chr3:g.15507849T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15466342T>A , CM000665.2:g.15466342T>A	GRCh38
NC_000003.11:g.15507849T>A , CM000665.1:g.15507849T>A	GRCh37
NC_000003.10:g.15482853T>A	NCBI36
NG_009032.1:g.60410A>T
NG_009032.2:g.60410A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000383788.10:c.813A>T MANE Select	ENSP00000373298.3:p.Ala271=
ENST00000604401.2:n.809A>T
ENST00000679838.1:c.*575A>T	ENSP00000505708.1:n.*575A>T
ENST00000680545.1:n.579A>T
ENST00000681097.1:c.813A>T	ENSP00000505397.1:p.Ala271=
ENST00000383781.8:c.783A>T	ENSP00000373291.3:p.Ala261=
ENST00000383786.9:c.711A>T	ENSP00000373296.3:p.Ala237=
ENST00000383788.9:c.813A>T	ENSP00000373298.3:p.Ala271=
ENST00000603808.5:c.813A>T	ENSP00000474271.1:p.Ala271=
NM_005677.3:c.813A>T	NP_005668.2:p.Ala271=
NM_080538.2:c.783A>T	NP_536799.1:p.Ala261=
NM_080539.3:c.711A>T	NP_536800.2:p.Ala237=
NM_005677.4:c.813A>T MANE Select	NP_005668.2:p.Ala271=
NM_080539.4:c.711A>T	NP_536800.2:p.Ala237=