Canonical Allele Identifier: CA356117487

Gene: DOK7

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.3493157G>C , CM000666.2:g.3493157G>C	GRCh38
NC_000004.11:g.3494884G>C , CM000666.1:g.3494884G>C	GRCh37
NC_000004.10:g.3464682G>C	NCBI36
NG_013072.2:g.34852G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340083.6:c.1171G>C MANE Select	ENSP00000344432.5:p.Gly391Arg
ENST00000643608.1:c.739G>C	ENSP00000495701.1:p.Gly247Arg
ENST00000340083.5:c.1171G>C	ENSP00000344432.5:p.Gly391Arg
ENST00000507039.5:c.*392G>C	ENSP00000423614.1:n.*392G>C
ENST00000512714.1:n.363G>C
ENST00000515886.5:n.939G>C
NM_001164673.1:c.*392G>C	NP_001158145.1:n.*392G>C
NM_001256896.1:c.241G>C	NP_001243825.1:p.Gly81Arg
NM_001301071.1:c.1171G>C	NP_001288000.1:p.Gly391Arg
NM_173660.4:c.1171G>C	NP_775931.3:p.Gly391Arg
XM_011513435.1:c.1171G>C	XP_011511737.1:p.Gly391Arg
XM_011513436.1:c.1171G>C	XP_011511738.1:p.Gly391Arg
XM_011513437.1:c.757G>C	XP_011511739.1:p.Gly253Arg
NM_001363811.1:c.739G>C	NP_001350740.1:p.Gly247Arg
XM_011513435.2:c.1171G>C	XP_011511737.1:p.Gly391Arg
XM_011513437.2:c.757G>C	XP_011511739.1:p.Gly253Arg
NM_173660.5:c.1171G>C MANE Select	NP_775931.3:p.Gly391Arg
NM_001164673.2:c.*392G>C	NP_001158145.1:n.*392G>C
NM_001301071.2:c.1171G>C	NP_001288000.1:p.Gly391Arg
NM_001363811.2:c.739G>C	NP_001350740.1:p.Gly247Arg
NM_001256896.2:c.241G>C	NP_001243825.1:p.Gly81Arg