Canonical Allele Identifier: CA351599495

Gene: COLQ

Linked Data

• MyVariant Identifiers: chr3:g.15520484C>A (hg19) ; chr3:g.15478977C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15478977C>A , CM000665.2:g.15478977C>A	GRCh38
NC_000003.11:g.15520484C>A , CM000665.1:g.15520484C>A	GRCh37
NC_000003.10:g.15495488C>A	NCBI36
NG_009032.1:g.47775G>T
NG_009032.2:g.47775G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000383788.10:c.393G>T MANE Select	ENSP00000373298.3:p.Lys131Asn
ENST00000679838.1:c.*155G>T	ENSP00000505708.1:n.*155G>T
ENST00000681097.1:c.393G>T	ENSP00000505397.1:p.Lys131Asn
ENST00000383781.8:c.363G>T	ENSP00000373291.3:p.Lys121Asn
ENST00000383786.9:c.291G>T	ENSP00000373296.3:p.Lys97Asn
ENST00000383788.9:c.393G>T	ENSP00000373298.3:p.Lys131Asn
ENST00000603469.1:n.64G>T
ENST00000603808.5:c.393G>T	ENSP00000474271.1:p.Lys131Asn
ENST00000605797.1:c.222G>T	ENSP00000474936.1:p.Lys74Asn
NM_005677.3:c.393G>T	NP_005668.2:p.Lys131Asn
NM_080538.2:c.363G>T	NP_536799.1:p.Lys121Asn
NM_080539.3:c.291G>T	NP_536800.2:p.Lys97Asn
NM_005677.4:c.393G>T MANE Select	NP_005668.2:p.Lys131Asn
NM_080539.4:c.291G>T	NP_536800.2:p.Lys97Asn