Canonical Allele Identifier: CA372763076

Gene: DOCK8

Linked Data

• MyVariant Identifiers: chr9:g.377005T>G (hg19) ; chr9:g.377005T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.377005T>G , CM000671.2:g.377005T>G	GRCh38
NC_000009.11:g.377005T>G , CM000671.1:g.377005T>G	GRCh37
NC_000009.10:g.367005T>G	NCBI36
NG_017007.1:g.167141T>G , LRG_196:g.167141T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.2030T>G	ENSP00000371766.2:p.Leu677Arg
ENST00000382331.6:n.731T>G
ENST00000483757.6:c.*921T>G	ENSP00000417691.2:n.*921T>G
ENST00000682260.1:n.2130T>G
ENST00000685949.1:n.1022T>G
ENST00000432829.7:c.2234T>G MANE Select	ENSP00000394888.3:p.Leu745Arg
ENST00000382329.1:c.635T>G	ENSP00000371766.1:p.Leu212Arg
ENST00000382331.5:c.140T>G	ENSP00000371768.1:p.Leu47Arg
ENST00000432829.6:c.2234T>G	ENSP00000394888.3:p.Leu745Arg
ENST00000453981.5:c.2030T>G	ENSP00000408464.2:p.Leu677Arg
ENST00000469391.5:c.2030T>G	ENSP00000419438.1:p.Leu677Arg
ENST00000483757.5:c.*1709T>G	ENSP00000417691.1:n.*1709T>G
ENST00000495184.5:n.4189T>G
NM_001190458.1:c.2030T>G	NP_001177387.1:p.Leu677Arg
NM_001193536.1:c.2030T>G	NP_001180465.1:p.Leu677Arg
NM_203447.3:c.2234T>G , LRG_196t1:c.2234T>G	NP_982272.2:p.Leu745Arg
XM_011518045.1:c.2030T>G	XP_011516347.1:p.Leu677Arg
XM_011518046.1:c.2096T>G	XP_011516348.1:p.Leu699Arg
XM_011518047.1:c.2030T>G	XP_011516349.1:p.Leu677Arg
XM_011518048.1:c.2030T>G	XP_011516350.1:p.Leu677Arg
XM_011518049.1:c.470T>G	XP_011516351.1:p.Leu157Arg
XM_011518045.3:c.2030T>G	XP_011516347.1:p.Leu677Arg
XM_011518046.2:c.2096T>G	XP_011516348.1:p.Leu699Arg
XM_011518047.3:c.2030T>G	XP_011516349.1:p.Leu677Arg
XM_011518048.2:c.2030T>G	XP_011516350.1:p.Leu677Arg
XM_011518049.2:c.470T>G	XP_011516351.1:p.Leu157Arg
XM_017015173.1:c.2030T>G	XP_016870662.1:p.Leu677Arg
XM_017015174.1:c.2096T>G	XP_016870663.1:p.Leu699Arg
NM_001190458.2:c.2030T>G	NP_001177387.1:p.Leu677Arg
NM_001193536.2:c.2030T>G	NP_001180465.1:p.Leu677Arg
NM_203447.4:c.2234T>G MANE Select	NP_982272.2:p.Leu745Arg