Canonical Allele Identifier: CA70613054

Gene: COLQ

Linked Data

• dbSNP Id: rs1048830203
• MyVariant Identifiers: chr3:g.15512075G>A (hg19) ; chr3:g.15470568G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470568G>A , CM000665.2:g.15470568G>A	GRCh38
NC_000003.11:g.15512075G>A , CM000665.1:g.15512075G>A	GRCh37
NC_000003.10:g.15487079G>A	NCBI36
NG_009032.1:g.56184C>T
NG_009032.2:g.56184C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.685C>T MANE Select	ENSP00000373298.3:p.Pro229Ser
ENST00000604401.2:n.681C>T
ENST00000679838.1:c.*447C>T	ENSP00000505708.1:n.*447C>T
ENST00000680545.1:n.451C>T
ENST00000681097.1:c.685C>T	ENSP00000505397.1:p.Pro229Ser
ENST00000383781.8:c.655C>T	ENSP00000373291.3:p.Pro219Ser
ENST00000383786.9:c.583C>T	ENSP00000373296.3:p.Pro195Ser
ENST00000383788.9:c.685C>T	ENSP00000373298.3:p.Pro229Ser
ENST00000603808.5:c.685C>T	ENSP00000474271.1:p.Pro229Ser
ENST00000605797.1:c.514C>T	ENSP00000474936.1:p.Pro172Ser
NM_005677.3:c.685C>T	NP_005668.2:p.Pro229Ser
NM_080538.2:c.655C>T	NP_536799.1:p.Pro219Ser
NM_080539.3:c.583C>T	NP_536800.2:p.Pro195Ser
NM_005677.4:c.685C>T MANE Select	NP_005668.2:p.Pro229Ser
NM_080539.4:c.583C>T	NP_536800.2:p.Pro195Ser