Canonical Allele Identifier: CA2275826

Gene: EAF1-AS1 COLQ

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15453916T>C , CM000665.2:g.15453916T>C	GRCh38
NC_000003.11:g.15495423T>C , CM000665.1:g.15495423T>C	GRCh37
NC_000003.10:g.15470427T>C	NCBI36
NG_009032.1:g.72836A>G
NG_009032.2:g.72836A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005677.4:c.1211A>G (COLQ) MANE Select	NP_005668.2:p.Tyr404Cys
ENST00000383788.10:c.1211A>G (COLQ) MANE Select	ENSP00000373298.3:p.Tyr404Cys
NM_005677.3:c.1211A>G (COLQ)	NP_005668.2:p.Tyr404Cys
NM_080538.2:c.1181A>G (COLQ)	NP_536799.1:p.Tyr394Cys
NM_080539.3:c.1109A>G (COLQ)	NP_536800.2:p.Tyr370Cys
NM_080539.4:c.1109A>G (COLQ)	NP_536800.2:p.Tyr370Cys
ENST00000383781.8:c.1181A>G (COLQ)	ENSP00000373291.3:p.Tyr394Cys
ENST00000383786.9:c.1109A>G (COLQ)	ENSP00000373296.3:p.Tyr370Cys
ENST00000383788.9:c.1211A>G (COLQ)	ENSP00000373298.3:p.Tyr404Cys
ENST00000603808.5:c.1214A>G (COLQ)	ENSP00000474271.1:p.Tyr405Cys
ENST00000604401.2:n.1067A>G (COLQ)
ENST00000608408.2:n.42A>G (EAF1-AS1)
ENST00000629729.3:c.58A>G	ENSP00000518887.1:p.Thr20Ala
ENST00000679838.1:c.*973A>G (COLQ)	ENSP00000505708.1:n.*973A>G
ENST00000680240.1:n.1123A>G (COLQ)
ENST00000680545.1:n.977A>G (COLQ)
ENST00000680897.1:n.676A>G (COLQ)
ENST00000681097.1:c.*225A>G (COLQ)	ENSP00000505397.1:n.*225A>G
ENST00000681222.1:n.4702A>G (COLQ)