Canonical Allele Identifier: CA384413408

Gene: LRRK2

Linked Data

• MyVariant Identifiers: chr12:g.40757290T>G (hg19) ; chr12:g.40363488T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40363488T>G , CM000674.2:g.40363488T>G	GRCh38
NC_000012.11:g.40757290T>G , CM000674.1:g.40757290T>G	GRCh37
NC_000012.10:g.39043557T>G	NCBI36
NG_011709.1:g.143478T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.7115T>G MANE Select	ENSP00000298910.7:p.Val2372Gly
ENST00000636518.1:c.912T>G
ENST00000679360.1:c.*6024T>G	ENSP00000505368.1:n.*6024T>G
ENST00000679532.1:c.2889T>G
ENST00000679683.1:c.905T>G
ENST00000680018.1:c.2560T>G	ENSP00000505347.1:n.2560T>G
ENST00000680422.1:c.4202T>G
ENST00000680425.1:c.2282T>G	ENSP00000506459.1:n.2282T>G
ENST00000680453.1:c.2572T>G
ENST00000680790.1:c.6860T>G	ENSP00000505335.1:p.Val2287Gly
ENST00000681136.1:n.3099T>G
ENST00000681696.1:c.2798T>G	ENSP00000505871.1:p.Val933Gly
ENST00000681773.1:n.322T>G
ENST00000298910.11:c.7115T>G	ENSP00000298910.7:p.Val2372Gly
ENST00000430804.5:c.4411T>G
ENST00000479187.5:n.3796T>G
NM_198578.3:c.7115T>G	NP_940980.3:p.Val2372Gly
XM_005268629.2:c.7115T>G	XP_005268686.1:p.Val2372Gly
XM_011537877.1:c.7115T>G	XP_011536179.1:p.Val2372Gly
XM_011537879.1:c.5912T>G	XP_011536181.1:p.Val1971Gly
XR_944868.1:n.485-8661A>C
XM_005268629.4:c.7115T>G	XP_005268686.1:p.Val2372Gly
XM_011537877.3:c.7115T>G	XP_011536179.1:p.Val2372Gly
XM_017018787.1:c.4031T>G	XP_016874276.1:p.Val1344Gly
XM_017018788.2:c.3377T>G	XP_016874277.1:p.Val1126Gly
XM_024448833.1:c.5912T>G	XP_024304601.1:p.Val1971Gly
XR_944868.2:n.485-8661A>C
NM_198578.4:c.7115T>G MANE Select	NP_940980.4:p.Val2372Gly