Canonical Allele Identifier: CA351599531

Gene: COLQ

Linked Data

• MyVariant Identifiers: chr3:g.15520494G>C (hg19) ; chr3:g.15478987G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15478987G>C , CM000665.2:g.15478987G>C	GRCh38
NC_000003.11:g.15520494G>C , CM000665.1:g.15520494G>C	GRCh37
NC_000003.10:g.15495498G>C	NCBI36
NG_009032.1:g.47765C>G
NG_009032.2:g.47765C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000383788.10:c.383C>G MANE Select	ENSP00000373298.3:p.Pro128Arg
ENST00000679838.1:c.*145C>G	ENSP00000505708.1:n.*145C>G
ENST00000681097.1:c.383C>G	ENSP00000505397.1:p.Pro128Arg
ENST00000383781.8:c.353C>G	ENSP00000373291.3:p.Pro118Arg
ENST00000383786.9:c.281C>G	ENSP00000373296.3:p.Pro94Arg
ENST00000383788.9:c.383C>G	ENSP00000373298.3:p.Pro128Arg
ENST00000603469.1:n.54C>G
ENST00000603808.5:c.383C>G	ENSP00000474271.1:p.Pro128Arg
ENST00000605797.1:c.212C>G	ENSP00000474936.1:p.Pro71Arg
NM_005677.3:c.383C>G	NP_005668.2:p.Pro128Arg
NM_080538.2:c.353C>G	NP_536799.1:p.Pro118Arg
NM_080539.3:c.281C>G	NP_536800.2:p.Pro94Arg
NM_005677.4:c.383C>G MANE Select	NP_005668.2:p.Pro128Arg
NM_080539.4:c.281C>G	NP_536800.2:p.Pro94Arg