Canonical Allele Identifier: CA384403665

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 2567348
• ClinVar RCV Id: RCV003311194
• MyVariant Identifiers: chr12:g.40734139C>T (hg19) ; chr12:g.40340337C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40340337C>T , CM000674.2:g.40340337C>T	GRCh38
NC_000012.11:g.40734139C>T , CM000674.1:g.40734139C>T	GRCh37
NC_000012.10:g.39020406C>T	NCBI36
NG_011709.1:g.120327C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000298910.12:c.5992C>T MANE Select	ENSP00000298910.7:p.His1998Tyr
ENST00000679360.1:c.*4901C>T	ENSP00000505368.1:n.*4901C>T
ENST00000679532.1:c.1766C>T
ENST00000680018.1:c.1437C>T	ENSP00000505347.1:n.1437C>T
ENST00000680422.1:c.1637C>T
ENST00000680425.1:c.1159C>T	ENSP00000506459.1:n.1159C>T
ENST00000680453.1:c.1449C>T
ENST00000680790.1:c.5737C>T	ENSP00000505335.1:p.His1913Tyr
ENST00000681136.1:n.1976C>T
ENST00000681696.1:c.1675C>T	ENSP00000505871.1:p.His559Tyr
ENST00000298910.11:c.5992C>T	ENSP00000298910.7:p.His1998Tyr
ENST00000430804.5:c.3288C>T
ENST00000479187.5:n.2673C>T
NM_198578.3:c.5992C>T	NP_940980.3:p.His1998Tyr
XM_005268629.2:c.5992C>T	XP_005268686.1:p.His1998Tyr
XM_011537877.1:c.5992C>T	XP_011536179.1:p.His1998Tyr
XM_011537878.1:c.5992C>T	XP_011536180.1:p.His1998Tyr
XM_011537879.1:c.4789C>T	XP_011536181.1:p.His1597Tyr
XM_005268629.4:c.5992C>T	XP_005268686.1:p.His1998Tyr
XM_011537877.3:c.5992C>T	XP_011536179.1:p.His1998Tyr
XM_017018787.1:c.2908C>T	XP_016874276.1:p.His970Tyr
XM_017018788.2:c.2254C>T	XP_016874277.1:p.His752Tyr
XM_024448833.1:c.4789C>T	XP_024304601.1:p.His1597Tyr
NM_198578.4:c.5992C>T MANE Select	NP_940980.4:p.His1998Tyr