Canonical Allele Identifier: CA356115398

Gene: DOK7

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.3489706G>T , CM000666.2:g.3489706G>T	GRCh38
NC_000004.11:g.3491433G>T , CM000666.1:g.3491433G>T	GRCh37
NC_000004.10:g.3461231G>T	NCBI36
NG_013072.2:g.31401G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_173660.5:c.682G>T MANE Select	NP_775931.3:p.Glu228Ter
ENST00000340083.6:c.682G>T MANE Select	ENSP00000344432.5:p.Glu228Ter
NM_001164673.1:c.671G>T	NP_001158145.1:p.Gly224Val
NM_001164673.2:c.671G>T	NP_001158145.1:p.Gly224Val
NM_001256896.1:c.-249G>T	NP_001243825.1:n.-249G>T
NM_001256896.2:c.-249G>T	NP_001243825.1:n.-249G>T
NM_001301071.1:c.682G>T	NP_001288000.1:p.Glu228Ter
NM_001301071.2:c.682G>T	NP_001288000.1:p.Glu228Ter
NM_001363811.1:c.250G>T	NP_001350740.1:p.Glu84Ter
NM_001363811.2:c.250G>T	NP_001350740.1:p.Glu84Ter
NM_173660.4:c.682G>T	NP_775931.3:p.Glu228Ter
ENST00000340083.5:c.682G>T	ENSP00000344432.5:p.Glu228Ter
ENST00000503688.5:n.315G>T
ENST00000507039.5:c.671G>T	ENSP00000423614.1:p.Gly224Val
ENST00000513995.1:n.340G>T
ENST00000515886.5:n.450G>T
ENST00000643608.1:c.250G>T	ENSP00000495701.1:p.Glu84Ter
XM_011513435.1:c.682G>T	XP_011511737.1:p.Glu228Ter
XM_011513435.2:c.682G>T	XP_011511737.1:p.Glu228Ter
XM_011513436.1:c.682G>T	XP_011511738.1:p.Glu228Ter
XM_011513437.1:c.268G>T	XP_011511739.1:p.Glu90Ter
XM_011513437.2:c.268G>T	XP_011511739.1:p.Glu90Ter