Canonical Allele Identifier: CA356117874

Gene: DOK7

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.3493373G>T , CM000666.2:g.3493373G>T	GRCh38
NC_000004.11:g.3495100G>T , CM000666.1:g.3495100G>T	GRCh37
NC_000004.10:g.3464898G>T	NCBI36
NG_013072.2:g.35068G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_173660.5:c.1387G>T MANE Select	NP_775931.3:p.Glu463Ter
ENST00000340083.6:c.1387G>T MANE Select	ENSP00000344432.5:p.Glu463Ter
NM_001164673.1:c.*608G>T	NP_001158145.1:n.*608G>T
NM_001164673.2:c.*608G>T	NP_001158145.1:n.*608G>T
NM_001256896.1:c.457G>T	NP_001243825.1:p.Glu153Ter
NM_001256896.2:c.457G>T	NP_001243825.1:p.Glu153Ter
NM_001301071.1:c.1387G>T	NP_001288000.1:p.Glu463Ter
NM_001301071.2:c.1387G>T	NP_001288000.1:p.Glu463Ter
NM_001363811.1:c.955G>T	NP_001350740.1:p.Glu319Ter
NM_001363811.2:c.955G>T	NP_001350740.1:p.Glu319Ter
NM_173660.4:c.1387G>T	NP_775931.3:p.Glu463Ter
ENST00000340083.5:c.1387G>T	ENSP00000344432.5:p.Glu463Ter
ENST00000507039.5:c.*608G>T	ENSP00000423614.1:n.*608G>T
ENST00000512714.1:n.579G>T
ENST00000515886.5:n.1155G>T
ENST00000643608.1:c.955G>T	ENSP00000495701.1:p.Glu319Ter
XM_011513435.1:c.1387G>T	XP_011511737.1:p.Glu463Ter
XM_011513435.2:c.1387G>T	XP_011511737.1:p.Glu463Ter
XM_011513436.1:c.1387G>T	XP_011511738.1:p.Glu463Ter
XM_011513437.1:c.973G>T	XP_011511739.1:p.Glu325Ter
XM_011513437.2:c.973G>T	XP_011511739.1:p.Glu325Ter