Canonical Allele Identifier: CA6514865

Gene: LRRK2

Linked Data

• dbSNP Id: rs763733909
• ExAC: 12:40757374 T / A
• gnomAD v2: 12-40757374-T-A
• gnomAD v3: 12-40363572-T-A
• gnomAD v4: 12-40363572-T-A
• MyVariant Identifiers: chr12:g.40757374T>A (hg19) ; chr12:g.40363572T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40363572T>A , CM000674.2:g.40363572T>A	GRCh38
NC_000012.11:g.40757374T>A , CM000674.1:g.40757374T>A	GRCh37
NC_000012.10:g.39043641T>A	NCBI36
NG_011709.1:g.143562T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.7181+18T>A MANE Select	ENSP00000298910.7:n.7181+18T>A
ENST00000636518.1:c.978+18T>A
ENST00000679360.1:c.*6090+18T>A	ENSP00000505368.1:n.*6090+18T>A
ENST00000679532.1:c.2955+18T>A
ENST00000679683.1:c.971+18T>A
ENST00000680018.1:c.2626+18T>A	ENSP00000505347.1:n.2626+18T>A
ENST00000680422.1:c.4268+18T>A
ENST00000680425.1:c.2348+18T>A	ENSP00000506459.1:n.2348+18T>A
ENST00000680453.1:c.2638+18T>A
ENST00000680790.1:c.6926+18T>A	ENSP00000505335.1:n.6926+18T>A
ENST00000681136.1:n.3165+18T>A
ENST00000681696.1:c.2864+18T>A	ENSP00000505871.1:n.2864+18T>A
ENST00000681773.1:n.388+18T>A
ENST00000298910.11:c.7181+18T>A	ENSP00000298910.7:n.7181+18T>A
ENST00000430804.5:c.4477+18T>A
ENST00000479187.5:n.3862+18T>A
NM_198578.3:c.7181+18T>A	NP_940980.3:n.7181+18T>A
XM_005268629.2:c.7181+18T>A	XP_005268686.1:n.7181+18T>A
XM_011537877.1:c.7181+18T>A	XP_011536179.1:n.7181+18T>A
XM_011537879.1:c.5978+18T>A	XP_011536181.1:n.5978+18T>A
XR_944868.1:n.485-8745A>T
XM_005268629.4:c.7181+18T>A	XP_005268686.1:n.7181+18T>A
XM_011537877.3:c.7181+18T>A	XP_011536179.1:n.7181+18T>A
XM_017018787.1:c.4097+18T>A	XP_016874276.1:n.4097+18T>A
XM_017018788.2:c.3443+18T>A	XP_016874277.1:n.3443+18T>A
XM_024448833.1:c.5978+18T>A	XP_024304601.1:n.5978+18T>A
XR_944868.2:n.485-8745A>T
NM_198578.4:c.7181+18T>A MANE Select	NP_940980.4:n.7181+18T>A