Canonical Allele Identifier: CA384413610

Gene: LRRK2

Linked Data

• gnomAD v4: 12-40363544-C-T
• COSMIC: COSM2065878 ; COSM2065879
• MyVariant Identifiers: chr12:g.40757346C>T (hg19) ; chr12:g.40363544C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40363544C>T , CM000674.2:g.40363544C>T	GRCh38
NC_000012.11:g.40757346C>T , CM000674.1:g.40757346C>T	GRCh37
NC_000012.10:g.39043613C>T	NCBI36
NG_011709.1:g.143534C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000298910.12:c.7171C>T MANE Select	ENSP00000298910.7:p.His2391Tyr
ENST00000636518.1:c.968C>T
ENST00000679360.1:c.*6080C>T	ENSP00000505368.1:n.*6080C>T
ENST00000679532.1:c.2945C>T
ENST00000679683.1:c.961C>T
ENST00000680018.1:c.2616C>T	ENSP00000505347.1:n.2616C>T
ENST00000680422.1:c.4258C>T
ENST00000680425.1:c.2338C>T	ENSP00000506459.1:n.2338C>T
ENST00000680453.1:c.2628C>T
ENST00000680790.1:c.6916C>T	ENSP00000505335.1:p.His2306Tyr
ENST00000681136.1:n.3155C>T
ENST00000681696.1:c.2854C>T	ENSP00000505871.1:p.His952Tyr
ENST00000681773.1:n.378C>T
ENST00000298910.11:c.7171C>T	ENSP00000298910.7:p.His2391Tyr
ENST00000430804.5:c.4467C>T
ENST00000479187.5:n.3852C>T
NM_198578.3:c.7171C>T	NP_940980.3:p.His2391Tyr
XM_005268629.2:c.7171C>T	XP_005268686.1:p.His2391Tyr
XM_011537877.1:c.7171C>T	XP_011536179.1:p.His2391Tyr
XM_011537879.1:c.5968C>T	XP_011536181.1:p.His1990Tyr
XR_944868.1:n.485-8717G>A
XM_005268629.4:c.7171C>T	XP_005268686.1:p.His2391Tyr
XM_011537877.3:c.7171C>T	XP_011536179.1:p.His2391Tyr
XM_017018787.1:c.4087C>T	XP_016874276.1:p.His1363Tyr
XM_017018788.2:c.3433C>T	XP_016874277.1:p.His1145Tyr
XM_024448833.1:c.5968C>T	XP_024304601.1:p.His1990Tyr
XR_944868.2:n.485-8717G>A
NM_198578.4:c.7171C>T MANE Select	NP_940980.4:p.His2391Tyr