Canonical Allele Identifier: CA384404025

Gene: LRRK2

Linked Data

• COSMIC: COSM6072357 ; COSM6072358
• MyVariant Identifiers: chr12:g.40734215A>G (hg19) ; chr12:g.40340413A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40340413A>G , CM000674.2:g.40340413A>G	GRCh38
NC_000012.11:g.40734215A>G , CM000674.1:g.40734215A>G	GRCh37
NC_000012.10:g.39020482A>G	NCBI36
NG_011709.1:g.120403A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000298910.12:c.6068A>G MANE Select	ENSP00000298910.7:p.Tyr2023Cys
ENST00000679360.1:c.*4977A>G	ENSP00000505368.1:n.*4977A>G
ENST00000679532.1:c.1842A>G
ENST00000680018.1:c.1513A>G	ENSP00000505347.1:n.1513A>G
ENST00000680422.1:c.1713A>G
ENST00000680425.1:c.1235A>G	ENSP00000506459.1:n.1235A>G
ENST00000680453.1:c.1525A>G
ENST00000680790.1:c.5813A>G	ENSP00000505335.1:p.Tyr1938Cys
ENST00000681136.1:n.2052A>G
ENST00000681696.1:c.1751A>G	ENSP00000505871.1:p.Tyr584Cys
ENST00000298910.11:c.6068A>G	ENSP00000298910.7:p.Tyr2023Cys
ENST00000430804.5:c.3364A>G
ENST00000479187.5:n.2749A>G
NM_198578.3:c.6068A>G	NP_940980.3:p.Tyr2023Cys
XM_005268629.2:c.6068A>G	XP_005268686.1:p.Tyr2023Cys
XM_011537877.1:c.6068A>G	XP_011536179.1:p.Tyr2023Cys
XM_011537878.1:c.6068A>G	XP_011536180.1:p.Tyr2023Cys
XM_011537879.1:c.4865A>G	XP_011536181.1:p.Tyr1622Cys
XM_005268629.4:c.6068A>G	XP_005268686.1:p.Tyr2023Cys
XM_011537877.3:c.6068A>G	XP_011536179.1:p.Tyr2023Cys
XM_017018787.1:c.2984A>G	XP_016874276.1:p.Tyr995Cys
XM_017018788.2:c.2330A>G	XP_016874277.1:p.Tyr777Cys
XM_024448833.1:c.4865A>G	XP_024304601.1:p.Tyr1622Cys
NM_198578.4:c.6068A>G MANE Select	NP_940980.4:p.Tyr2023Cys