Canonical Allele Identifier: CA356117660

Gene: DOK7

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.3493253C>T , CM000666.2:g.3493253C>T	GRCh38
NC_000004.11:g.3494980C>T , CM000666.1:g.3494980C>T	GRCh37
NC_000004.10:g.3464778C>T	NCBI36
NG_013072.2:g.34948C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_173660.5:c.1267C>T MANE Select	NP_775931.3:p.Gln423Ter
ENST00000340083.6:c.1267C>T MANE Select	ENSP00000344432.5:p.Gln423Ter
NM_001164673.1:c.*488C>T	NP_001158145.1:n.*488C>T
NM_001164673.2:c.*488C>T	NP_001158145.1:n.*488C>T
NM_001256896.1:c.337C>T	NP_001243825.1:p.Gln113Ter
NM_001256896.2:c.337C>T	NP_001243825.1:p.Gln113Ter
NM_001301071.1:c.1267C>T	NP_001288000.1:p.Gln423Ter
NM_001301071.2:c.1267C>T	NP_001288000.1:p.Gln423Ter
NM_001363811.1:c.835C>T	NP_001350740.1:p.Gln279Ter
NM_001363811.2:c.835C>T	NP_001350740.1:p.Gln279Ter
NM_173660.4:c.1267C>T	NP_775931.3:p.Gln423Ter
ENST00000340083.5:c.1267C>T	ENSP00000344432.5:p.Gln423Ter
ENST00000507039.5:c.*488C>T	ENSP00000423614.1:n.*488C>T
ENST00000512714.1:n.459C>T
ENST00000515886.5:n.1035C>T
ENST00000643608.1:c.835C>T	ENSP00000495701.1:p.Gln279Ter
XM_011513435.1:c.1267C>T	XP_011511737.1:p.Gln423Ter
XM_011513435.2:c.1267C>T	XP_011511737.1:p.Gln423Ter
XM_011513436.1:c.1267C>T	XP_011511738.1:p.Gln423Ter
XM_011513437.1:c.853C>T	XP_011511739.1:p.Gln285Ter
XM_011513437.2:c.853C>T	XP_011511739.1:p.Gln285Ter