Canonical Allele Identifier: CA372763330

Gene: DOCK8

Linked Data

• MyVariant Identifiers: chr9:g.377124C>A (hg19) ; chr9:g.377124C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.377124C>A , CM000671.2:g.377124C>A	GRCh38
NC_000009.11:g.377124C>A , CM000671.1:g.377124C>A	GRCh37
NC_000009.10:g.367124C>A	NCBI36
NG_017007.1:g.167260C>A , LRG_196:g.167260C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.2149C>A	ENSP00000371766.2:p.Leu717Met
ENST00000382331.6:n.850C>A
ENST00000483757.6:c.*1040C>A	ENSP00000417691.2:n.*1040C>A
ENST00000682260.1:n.2249C>A
ENST00000685949.1:n.1141C>A
ENST00000432829.7:c.2353C>A MANE Select	ENSP00000394888.3:p.Leu785Met
ENST00000382329.1:c.754C>A	ENSP00000371766.1:p.Leu252Met
ENST00000382331.5:c.259C>A	ENSP00000371768.1:p.Leu87Met
ENST00000432829.6:c.2353C>A	ENSP00000394888.3:p.Leu785Met
ENST00000453981.5:c.2149C>A	ENSP00000408464.2:p.Leu717Met
ENST00000469391.5:c.2149C>A	ENSP00000419438.1:p.Leu717Met
ENST00000483757.5:c.*1828C>A	ENSP00000417691.1:n.*1828C>A
ENST00000495184.5:n.4308C>A
NM_001190458.1:c.2149C>A	NP_001177387.1:p.Leu717Met
NM_001193536.1:c.2149C>A	NP_001180465.1:p.Leu717Met
NM_203447.3:c.2353C>A , LRG_196t1:c.2353C>A	NP_982272.2:p.Leu785Met
XM_011518045.1:c.2149C>A	XP_011516347.1:p.Leu717Met
XM_011518046.1:c.2215C>A	XP_011516348.1:p.Leu739Met
XM_011518047.1:c.2149C>A	XP_011516349.1:p.Leu717Met
XM_011518048.1:c.2149C>A	XP_011516350.1:p.Leu717Met
XM_011518049.1:c.589C>A	XP_011516351.1:p.Leu197Met
XM_011518045.3:c.2149C>A	XP_011516347.1:p.Leu717Met
XM_011518046.2:c.2215C>A	XP_011516348.1:p.Leu739Met
XM_011518047.3:c.2149C>A	XP_011516349.1:p.Leu717Met
XM_011518048.2:c.2149C>A	XP_011516350.1:p.Leu717Met
XM_011518049.2:c.589C>A	XP_011516351.1:p.Leu197Met
XM_017015173.1:c.2149C>A	XP_016870662.1:p.Leu717Met
XM_017015174.1:c.2215C>A	XP_016870663.1:p.Leu739Met
NM_001190458.2:c.2149C>A	NP_001177387.1:p.Leu717Met
NM_001193536.2:c.2149C>A	NP_001180465.1:p.Leu717Met
NM_203447.4:c.2353C>A MANE Select	NP_982272.2:p.Leu785Met