Canonical Allele Identifier: CA2275792

Gene: EAF1-AS1 COLQ

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15451744C>T , CM000665.2:g.15451744C>T	GRCh38
NC_000003.11:g.15493251C>T , CM000665.1:g.15493251C>T	GRCh37
NC_000003.10:g.15468255C>T	NCBI36
NG_009032.1:g.75008G>A
NG_009032.2:g.75008G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005677.4:c.1299-31G>A (COLQ) MANE Select	NP_005668.2:n.1299-31G>A
ENST00000383788.10:c.1299-31G>A (COLQ) MANE Select	ENSP00000373298.3:n.1299-31G>A
NM_005677.3:c.1299-31G>A (COLQ)	NP_005668.2:n.1299-31G>A
NM_080538.2:c.1269-31G>A (COLQ)	NP_536799.1:n.1269-31G>A
NM_080539.3:c.1197-31G>A (COLQ)	NP_536800.2:n.1197-31G>A
NM_080539.4:c.1197-31G>A (COLQ)	NP_536800.2:n.1197-31G>A
ENST00000383781.8:c.1269-31G>A (COLQ)	ENSP00000373291.3:n.1269-31G>A
ENST00000383786.9:c.1197-31G>A (COLQ)	ENSP00000373296.3:n.1197-31G>A
ENST00000383788.9:c.1299-31G>A (COLQ)	ENSP00000373298.3:n.1299-31G>A
ENST00000603808.5:c.1302-31G>A (COLQ)	ENSP00000474271.1:n.1302-31G>A
ENST00000604401.2:n.1155-31G>A (COLQ)
ENST00000608408.2:n.130-31G>A (EAF1-AS1)
ENST00000629729.3:c.146-31G>A	ENSP00000518887.1:n.146-31G>A
ENST00000679838.1:c.*1061-31G>A (COLQ)	ENSP00000505708.1:n.*1061-31G>A
ENST00000680240.1:n.1211-31G>A (COLQ)
ENST00000680545.1:n.1065-31G>A (COLQ)
ENST00000680897.1:n.764-31G>A (COLQ)
ENST00000681097.1:c.*313-31G>A (COLQ)	ENSP00000505397.1:n.*313-31G>A
ENST00000681222.1:n.4790-31G>A (COLQ)