Canonical Allele Identifier: CA351598165

Gene: COLQ

Linked Data

• MyVariant Identifiers: chr3:g.15512117T>G (hg19) ; chr3:g.15470610T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470610T>G , CM000665.2:g.15470610T>G	GRCh38
NC_000003.11:g.15512117T>G , CM000665.1:g.15512117T>G	GRCh37
NC_000003.10:g.15487121T>G	NCBI36
NG_009032.1:g.56142A>C
NG_009032.2:g.56142A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.643A>C MANE Select	ENSP00000373298.3:p.Met215Leu
ENST00000604401.2:n.639A>C
ENST00000679838.1:c.*405A>C	ENSP00000505708.1:n.*405A>C
ENST00000680545.1:n.409A>C
ENST00000681097.1:c.643A>C	ENSP00000505397.1:p.Met215Leu
ENST00000383781.8:c.613A>C	ENSP00000373291.3:p.Met205Leu
ENST00000383786.9:c.541A>C	ENSP00000373296.3:p.Met181Leu
ENST00000383788.9:c.643A>C	ENSP00000373298.3:p.Met215Leu
ENST00000603808.5:c.643A>C	ENSP00000474271.1:p.Met215Leu
ENST00000605797.1:c.472A>C	ENSP00000474936.1:p.Met158Leu
NM_005677.3:c.643A>C	NP_005668.2:p.Met215Leu
NM_080538.2:c.613A>C	NP_536799.1:p.Met205Leu
NM_080539.3:c.541A>C	NP_536800.2:p.Met181Leu
NM_005677.4:c.643A>C MANE Select	NP_005668.2:p.Met215Leu
NM_080539.4:c.541A>C	NP_536800.2:p.Met181Leu