Canonical Allele Identifier: CA1347589200

Gene: COLQ

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470488G= , CM000665.2:g.15470488G=	GRCh38
NC_000003.11:g.15511995G= , CM000665.1:g.15511995G=	GRCh37
NC_000003.10:g.15486999G=	NCBI36
NG_009032.1:g.56264C=
NG_009032.2:g.56264C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.717+48C= MANE Select	ENSP00000373298.3:n.717+48C=
ENST00000604401.2:n.713+48C=
ENST00000679838.1:c.*479+48C=	ENSP00000505708.1:n.*479+48C=
ENST00000680545.1:n.483+48C=
ENST00000681097.1:c.717+48C=	ENSP00000505397.1:n.717+48C=
ENST00000383781.8:c.687+48C=	ENSP00000373291.3:n.687+48C=
ENST00000383786.9:c.615+48C=	ENSP00000373296.3:n.615+48C=
ENST00000383788.9:c.717+48C=	ENSP00000373298.3:n.717+48C=
ENST00000603808.5:c.717+48C=	ENSP00000474271.1:n.717+48C=
ENST00000605797.1:c.546+48C=	ENSP00000474936.1:n.546+48C=
NM_005677.3:c.717+48C=	NP_005668.2:n.717+48C=
NM_080538.2:c.687+48C=	NP_536799.1:n.687+48C=
NM_080539.3:c.615+48C=	NP_536800.2:n.615+48C=
NM_005677.4:c.717+48C= MANE Select	NP_005668.2:n.717+48C=
NM_080539.4:c.615+48C=	NP_536800.2:n.615+48C=