Canonical Allele Identifier: CA432643514

Gene: COLQ

Linked Data

• MyVariant Identifiers: chr3:g.15512109T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470602T>A , CM000665.2:g.15470602T>A	GRCh38
NC_000003.11:g.15512109T>A , CM000665.1:g.15512109T>A	GRCh37
NC_000003.10:g.15487113T>A	NCBI36
NG_009032.1:g.56150A>T
NG_009032.2:g.56150A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.651A>T MANE Select	ENSP00000373298.3:p.Pro217=
ENST00000604401.2:n.647A>T
ENST00000679838.1:c.*413A>T	ENSP00000505708.1:n.*413A>T
ENST00000680545.1:n.417A>T
ENST00000681097.1:c.651A>T	ENSP00000505397.1:p.Pro217=
ENST00000383781.8:c.621A>T	ENSP00000373291.3:p.Pro207=
ENST00000383786.9:c.549A>T	ENSP00000373296.3:p.Pro183=
ENST00000383788.9:c.651A>T	ENSP00000373298.3:p.Pro217=
ENST00000603808.5:c.651A>T	ENSP00000474271.1:p.Pro217=
ENST00000605797.1:c.480A>T	ENSP00000474936.1:p.Pro160=
NM_005677.3:c.651A>T	NP_005668.2:p.Pro217=
NM_080538.2:c.621A>T	NP_536799.1:p.Pro207=
NM_080539.3:c.549A>T	NP_536800.2:p.Pro183=
NM_005677.4:c.651A>T MANE Select	NP_005668.2:p.Pro217=
NM_080539.4:c.549A>T	NP_536800.2:p.Pro183=