Canonical Allele Identifier: CA351599537

Gene: COLQ

Linked Data

• MyVariant Identifiers: chr3:g.15520495G>A (hg19) ; chr3:g.15478988G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15478988G>A , CM000665.2:g.15478988G>A	GRCh38
NC_000003.11:g.15520495G>A , CM000665.1:g.15520495G>A	GRCh37
NC_000003.10:g.15495499G>A	NCBI36
NG_009032.1:g.47764C>T
NG_009032.2:g.47764C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000383788.10:c.382C>T MANE Select	ENSP00000373298.3:p.Pro128Ser
ENST00000679838.1:c.*144C>T	ENSP00000505708.1:n.*144C>T
ENST00000681097.1:c.382C>T	ENSP00000505397.1:p.Pro128Ser
ENST00000383781.8:c.352C>T	ENSP00000373291.3:p.Pro118Ser
ENST00000383786.9:c.280C>T	ENSP00000373296.3:p.Pro94Ser
ENST00000383788.9:c.382C>T	ENSP00000373298.3:p.Pro128Ser
ENST00000603469.1:n.53C>T
ENST00000603808.5:c.382C>T	ENSP00000474271.1:p.Pro128Ser
ENST00000605797.1:c.211C>T	ENSP00000474936.1:p.Pro71Ser
NM_005677.3:c.382C>T	NP_005668.2:p.Pro128Ser
NM_080538.2:c.352C>T	NP_536799.1:p.Pro118Ser
NM_080539.3:c.280C>T	NP_536800.2:p.Pro94Ser
NM_005677.4:c.382C>T MANE Select	NP_005668.2:p.Pro128Ser
NM_080539.4:c.280C>T	NP_536800.2:p.Pro94Ser