Canonical Allele Identifier: CA432639521
Community Standard Title: NM_005677.4(COLQ):c.1257C>T (p.Gly419=)
Gene: EAF1-AS1 HGNC NCBI
COLQ HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.15453870G>A , CM000665.2:g.15453870G>A GRCh38
NC_000003.11:g.15495377G>A , CM000665.1:g.15495377G>A GRCh37
NC_000003.10:g.15470381G>A NCBI36
NG_009032.1:g.72882C>T
NG_009032.2:g.72882C>T

Transcript Alleles

HGVS Amino-acid Change
NM_005677.4:c.1257C>T (COLQ) MANE Select NP_005668.2:p.Gly419=
ENST00000383788.10:c.1257C>T (COLQ) MANE Select ENSP00000373298.3:p.Gly419=
NM_005677.3:c.1257C>T (COLQ) NP_005668.2:p.Gly419=
NM_080538.2:c.1227C>T (COLQ) NP_536799.1:p.Gly409=
NM_080539.3:c.1155C>T (COLQ) NP_536800.2:p.Gly385=
NM_080539.4:c.1155C>T (COLQ) NP_536800.2:p.Gly385=
ENST00000383781.8:c.1227C>T (COLQ) ENSP00000373291.3:p.Gly409=
ENST00000383786.9:c.1155C>T (COLQ) ENSP00000373296.3:p.Gly385=
ENST00000383788.9:c.1257C>T (COLQ) ENSP00000373298.3:p.Gly419=
ENST00000603808.5:c.1260C>T (COLQ) ENSP00000474271.1:p.Gly420=
ENST00000604401.2:n.1113C>T (COLQ)
ENST00000608408.2:n.88C>T (EAF1-AS1)
ENST00000629729.3:c.104C>T ENSP00000518887.1:p.Ala35Val
ENST00000679838.1:c.*1019C>T (COLQ) ENSP00000505708.1:n.*1019C>T
ENST00000680240.1:n.1169C>T (COLQ)
ENST00000680545.1:n.1023C>T (COLQ)
ENST00000680897.1:n.722C>T (COLQ)
ENST00000681097.1:c.*271C>T (COLQ) ENSP00000505397.1:n.*271C>T
ENST00000681222.1:n.4748C>T (COLQ)