Canonical Allele Identifier: CA6514336

Gene: LRRK2

Linked Data

• dbSNP Id: rs771401320
• ExAC: 12:40713959 A / G
• gnomAD v2: 12-40713959-A-G
• gnomAD v4: 12-40320157-A-G
• COSMIC: COSM6462579 ; COSM6462580
• MyVariant Identifiers: chr12:g.40713959A>G (hg19) ; chr12:g.40320157A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40320157A>G , CM000674.2:g.40320157A>G	GRCh38
NC_000012.11:g.40713959A>G , CM000674.1:g.40713959A>G	GRCh37
NC_000012.10:g.39000226A>G	NCBI36
NG_011709.1:g.100147A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.4997A>G MANE Select	ENSP00000298910.7:p.Tyr1666Cys
ENST00000679360.1:c.*3906A>G	ENSP00000505368.1:n.*3906A>G
ENST00000679532.1:c.771A>G
ENST00000680018.1:c.442A>G	ENSP00000505347.1:n.442A>G
ENST00000680422.1:c.642A>G
ENST00000680425.1:c.183-877A>G	ENSP00000506459.1:n.183-877A>G
ENST00000680453.1:c.473-877A>G
ENST00000680790.1:c.4742A>G	ENSP00000505335.1:p.Tyr1581Cys
ENST00000681136.1:n.981A>G
ENST00000681696.1:c.680A>G	ENSP00000505871.1:p.Tyr227Cys
ENST00000298910.11:c.4997A>G	ENSP00000298910.7:p.Tyr1666Cys
ENST00000430804.5:c.2293A>G
ENST00000479187.5:n.1678A>G
NM_198578.3:c.4997A>G	NP_940980.3:p.Tyr1666Cys
XM_005268629.2:c.4997A>G	XP_005268686.1:p.Tyr1666Cys
XM_011537877.1:c.4997A>G	XP_011536179.1:p.Tyr1666Cys
XM_011537878.1:c.4997A>G	XP_011536180.1:p.Tyr1666Cys
XM_011537879.1:c.3794A>G	XP_011536181.1:p.Tyr1265Cys
XM_011537881.1:c.4828-877A>G	XP_011536183.1:n.4828-877A>G
XM_005268629.4:c.4997A>G	XP_005268686.1:p.Tyr1666Cys
XM_011537877.3:c.4997A>G	XP_011536179.1:p.Tyr1666Cys
XM_011537881.3:c.4828-877A>G	XP_011536183.1:n.4828-877A>G
XM_017018787.1:c.1913A>G	XP_016874276.1:p.Tyr638Cys
XM_017018788.2:c.1259A>G	XP_016874277.1:p.Tyr420Cys
XM_024448833.1:c.3794A>G	XP_024304601.1:p.Tyr1265Cys
XR_001748574.2:n.5365A>G
NM_198578.4:c.4997A>G MANE Select	NP_940980.4:p.Tyr1666Cys