Canonical Allele Identifier: CA6514595

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 1256386
• ClinVar RCV Id: RCV001663728 ; RCV002073105 ; RCV002359212
• dbSNP Id: rs150219613
• ExAC: 12:40734201 C / T
• gnomAD v2: 12-40734201-C-T
• gnomAD v3: 12-40340399-C-T
• gnomAD v4: 12-40340399-C-T
• MyVariant Identifiers: chr12:g.40734201C>T (hg19) ; chr12:g.40340399C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40340399C>T , CM000674.2:g.40340399C>T	GRCh38
NC_000012.11:g.40734201C>T , CM000674.1:g.40734201C>T	GRCh37
NC_000012.10:g.39020468C>T	NCBI36
NG_011709.1:g.120389C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.6054C>T MANE Select	ENSP00000298910.7:p.Tyr2018=
ENST00000679360.1:c.*4963C>T	ENSP00000505368.1:n.*4963C>T
ENST00000679532.1:c.1828C>T
ENST00000680018.1:c.1499C>T	ENSP00000505347.1:n.1499C>T
ENST00000680422.1:c.1699C>T
ENST00000680425.1:c.1221C>T	ENSP00000506459.1:n.1221C>T
ENST00000680453.1:c.1511C>T
ENST00000680790.1:c.5799C>T	ENSP00000505335.1:p.Tyr1933=
ENST00000681136.1:n.2038C>T
ENST00000681696.1:c.1737C>T	ENSP00000505871.1:p.Tyr579=
ENST00000298910.11:c.6054C>T	ENSP00000298910.7:p.Tyr2018=
ENST00000430804.5:c.3350C>T
ENST00000479187.5:n.2735C>T
NM_198578.3:c.6054C>T	NP_940980.3:p.Tyr2018=
XM_005268629.2:c.6054C>T	XP_005268686.1:p.Tyr2018=
XM_011537877.1:c.6054C>T	XP_011536179.1:p.Tyr2018=
XM_011537878.1:c.6054C>T	XP_011536180.1:p.Tyr2018=
XM_011537879.1:c.4851C>T	XP_011536181.1:p.Tyr1617=
XM_005268629.4:c.6054C>T	XP_005268686.1:p.Tyr2018=
XM_011537877.3:c.6054C>T	XP_011536179.1:p.Tyr2018=
XM_017018787.1:c.2970C>T	XP_016874276.1:p.Tyr990=
XM_017018788.2:c.2316C>T	XP_016874277.1:p.Tyr772=
XM_024448833.1:c.4851C>T	XP_024304601.1:p.Tyr1617=
NM_198578.4:c.6054C>T MANE Select	NP_940980.4:p.Tyr2018=