Canonical Allele Identifier: CA339918

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 1936
• ClinVar RCV Id: RCV000002013 ; RCV001659678
• dbSNP Id: rs33939927
• gnomAD v2: 12-40704236-C-G
• gnomAD v4: 12-40310434-C-G
• MyVariant Identifiers: chr12:g.40704236C>G (hg19) ; chr12:g.40310434C>G (hg38)
• PubMed: PMID:15541308 ; PMID:16003110 ; PMID:16533964 ; PMID:19020907 ; PMID:19308469 ; PMID:20301387

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40310434C>G , CM000674.2:g.40310434C>G	GRCh38
NC_000012.11:g.40704236C>G , CM000674.1:g.40704236C>G	GRCh37
NC_000012.10:g.38990503C>G	NCBI36
NG_011709.1:g.90424C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000298910.12:c.4321C>G MANE Select	ENSP00000298910.7:p.Arg1441Gly
ENST00000679360.1:c.*3230C>G	ENSP00000505368.1:n.*3230C>G
ENST00000680790.1:c.4066C>G	ENSP00000505335.1:p.Arg1356Gly
ENST00000681696.1:c.4C>G	ENSP00000505871.1:p.Arg2Gly
ENST00000298910.11:c.4321C>G	ENSP00000298910.7:p.Arg1441Gly
ENST00000430804.5:c.1617C>G
ENST00000479187.5:n.1002C>G
NM_198578.3:c.4321C>G	NP_940980.3:p.Arg1441Gly
XM_005268629.2:c.4321C>G	XP_005268686.1:p.Arg1441Gly
XM_011537877.1:c.4321C>G	XP_011536179.1:p.Arg1441Gly
XM_011537878.1:c.4321C>G	XP_011536180.1:p.Arg1441Gly
XM_011537879.1:c.3118C>G	XP_011536181.1:p.Arg1040Gly
XM_011537880.1:c.4321C>G	XP_011536182.1:p.Arg1441Gly
XM_011537881.1:c.4321C>G	XP_011536183.1:p.Arg1441Gly
XM_005268629.4:c.4321C>G	XP_005268686.1:p.Arg1441Gly
XM_011537877.3:c.4321C>G	XP_011536179.1:p.Arg1441Gly
XM_011537881.3:c.4321C>G	XP_011536183.1:p.Arg1441Gly
XM_017018786.2:c.4321C>G	XP_016874275.1:p.Arg1441Gly
XM_017018787.1:c.1237C>G	XP_016874276.1:p.Arg413Gly
XM_017018788.2:c.583C>G	XP_016874277.1:p.Arg195Gly
XM_024448833.1:c.3118C>G	XP_024304601.1:p.Arg1040Gly
XR_001748574.2:n.4563C>G
NM_198578.4:c.4321C>G MANE Select	NP_940980.4:p.Arg1441Gly