Canonical Allele Identifier: CA2829061

Gene: DOK7

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.3485570G>C , CM000666.2:g.3485570G>C	GRCh38
NC_000004.11:g.3487297G>C , CM000666.1:g.3487297G>C	GRCh37
NC_000004.10:g.3457095G>C	NCBI36
NG_013072.2:g.27265G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_173660.5:c.564G>C MANE Select	NP_775931.3:p.Glu188Asp
ENST00000340083.6:c.564G>C MANE Select	ENSP00000344432.5:p.Glu188Asp
NM_001164673.1:c.553G>C	NP_001158145.1:p.Gly185Arg
NM_001164673.2:c.553G>C	NP_001158145.1:p.Gly185Arg
NM_001256896.1:c.-367G>C	NP_001243825.1:n.-367G>C
NM_001256896.2:c.-367G>C	NP_001243825.1:n.-367G>C
NM_001301071.1:c.564G>C	NP_001288000.1:p.Glu188Asp
NM_001301071.2:c.564G>C	NP_001288000.1:p.Glu188Asp
NM_001363811.1:c.132G>C	NP_001350740.1:p.Glu44Asp
NM_001363811.2:c.132G>C	NP_001350740.1:p.Glu44Asp
NM_173660.4:c.564G>C	NP_775931.3:p.Glu188Asp
ENST00000340083.5:c.564G>C	ENSP00000344432.5:p.Glu188Asp
ENST00000503688.5:n.197G>C
ENST00000507039.5:c.553G>C	ENSP00000423614.1:p.Gly185Arg
ENST00000513995.1:n.222G>C
ENST00000515886.5:n.332G>C
ENST00000643608.1:c.132G>C	ENSP00000495701.1:p.Glu44Asp
XM_011513435.1:c.564G>C	XP_011511737.1:p.Glu188Asp
XM_011513435.2:c.564G>C	XP_011511737.1:p.Glu188Asp
XM_011513436.1:c.564G>C	XP_011511738.1:p.Glu188Asp
XM_011513437.1:c.150G>C	XP_011511739.1:p.Glu50Asp
XM_011513437.2:c.150G>C	XP_011511739.1:p.Glu50Asp