Canonical Allele Identifier: CA235359538

Gene: LRRK2

Linked Data

• dbSNP Id: rs75695264
• gnomAD v4: 12-40363410-A-G
• MyVariant Identifiers: chr12:g.40757212A>G (hg19) ; chr12:g.40363410A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40363410A>G , CM000674.2:g.40363410A>G	GRCh38
NC_000012.11:g.40757212A>G , CM000674.1:g.40757212A>G	GRCh37
NC_000012.10:g.39043479A>G	NCBI36
NG_011709.1:g.143400A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.7037A>G MANE Select	ENSP00000298910.7:p.Tyr2346Cys
ENST00000636518.1:c.834A>G
ENST00000679360.1:c.*5946A>G	ENSP00000505368.1:n.*5946A>G
ENST00000679532.1:c.2811A>G
ENST00000679683.1:c.827A>G
ENST00000680018.1:c.2482A>G	ENSP00000505347.1:n.2482A>G
ENST00000680422.1:c.4124A>G
ENST00000680425.1:c.2204A>G	ENSP00000506459.1:n.2204A>G
ENST00000680453.1:c.2494A>G
ENST00000680790.1:c.6782A>G	ENSP00000505335.1:p.Tyr2261Cys
ENST00000681136.1:n.3021A>G
ENST00000681696.1:c.2720A>G	ENSP00000505871.1:p.Tyr907Cys
ENST00000681773.1:n.244A>G
ENST00000298910.11:c.7037A>G	ENSP00000298910.7:p.Tyr2346Cys
ENST00000430804.5:c.4333A>G
ENST00000479187.5:n.3718A>G
NM_198578.3:c.7037A>G	NP_940980.3:p.Tyr2346Cys
XM_005268629.2:c.7037A>G	XP_005268686.1:p.Tyr2346Cys
XM_011537877.1:c.7037A>G	XP_011536179.1:p.Tyr2346Cys
XM_011537879.1:c.5834A>G	XP_011536181.1:p.Tyr1945Cys
XR_944868.1:n.485-8583T>C
XM_005268629.4:c.7037A>G	XP_005268686.1:p.Tyr2346Cys
XM_011537877.3:c.7037A>G	XP_011536179.1:p.Tyr2346Cys
XM_017018787.1:c.3953A>G	XP_016874276.1:p.Tyr1318Cys
XM_017018788.2:c.3299A>G	XP_016874277.1:p.Tyr1100Cys
XM_024448833.1:c.5834A>G	XP_024304601.1:p.Tyr1945Cys
XR_944868.2:n.485-8583T>C
NM_198578.4:c.7037A>G MANE Select	NP_940980.4:p.Tyr2346Cys