Canonical Allele Identifier: CA2275978

Gene: COLQ

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15466396C>T , CM000665.2:g.15466396C>T	GRCh38
NC_000003.11:g.15507903C>T , CM000665.1:g.15507903C>T	GRCh37
NC_000003.10:g.15482907C>T	NCBI36
NG_009032.1:g.60356G>A
NG_009032.2:g.60356G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005677.4:c.759G>A MANE Select	NP_005668.2:p.Lys253=
ENST00000383788.10:c.759G>A MANE Select	ENSP00000373298.3:p.Lys253=
NM_005677.3:c.759G>A	NP_005668.2:p.Lys253=
NM_080538.2:c.729G>A	NP_536799.1:p.Lys243=
NM_080539.3:c.657G>A	NP_536800.2:p.Lys219=
NM_080539.4:c.657G>A	NP_536800.2:p.Lys219=
ENST00000383781.8:c.729G>A	ENSP00000373291.3:p.Lys243=
ENST00000383786.9:c.657G>A	ENSP00000373296.3:p.Lys219=
ENST00000383788.9:c.759G>A	ENSP00000373298.3:p.Lys253=
ENST00000603808.5:c.759G>A	ENSP00000474271.1:p.Lys253=
ENST00000604401.2:n.755G>A
ENST00000679838.1:c.*521G>A	ENSP00000505708.1:n.*521G>A
ENST00000680545.1:n.525G>A
ENST00000681097.1:c.759G>A	ENSP00000505397.1:p.Lys253=