Canonical Allele Identifier: CA351599502

Gene: COLQ

Linked Data

• dbSNP Id: rs142980906
• MyVariant Identifiers: chr3:g.15520486T>A (hg19) ; chr3:g.15478979T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15478979T>A , CM000665.2:g.15478979T>A	GRCh38
NC_000003.11:g.15520486T>A , CM000665.1:g.15520486T>A	GRCh37
NC_000003.10:g.15495490T>A	NCBI36
NG_009032.1:g.47773A>T
NG_009032.2:g.47773A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000383788.10:c.391A>T MANE Select	ENSP00000373298.3:p.Lys131Ter
ENST00000679838.1:c.*153A>T	ENSP00000505708.1:n.*153A>T
ENST00000681097.1:c.391A>T	ENSP00000505397.1:p.Lys131Ter
ENST00000383781.8:c.361A>T	ENSP00000373291.3:p.Lys121Ter
ENST00000383786.9:c.289A>T	ENSP00000373296.3:p.Lys97Ter
ENST00000383788.9:c.391A>T	ENSP00000373298.3:p.Lys131Ter
ENST00000603469.1:n.62A>T
ENST00000603808.5:c.391A>T	ENSP00000474271.1:p.Lys131Ter
ENST00000605797.1:c.220A>T	ENSP00000474936.1:p.Lys74Ter
NM_005677.3:c.391A>T	NP_005668.2:p.Lys131Ter
NM_080538.2:c.361A>T	NP_536799.1:p.Lys121Ter
NM_080539.3:c.289A>T	NP_536800.2:p.Lys97Ter
NM_005677.4:c.391A>T MANE Select	NP_005668.2:p.Lys131Ter
NM_080539.4:c.289A>T	NP_536800.2:p.Lys97Ter