Canonical Allele Identifier: CA6514695

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 1753612
• ClinVar RCV Id: RCV002361855
• dbSNP Id: rs200206597
• ExAC: 12:40745411 T / C
• gnomAD v2: 12-40745411-T-C
• gnomAD v4: 12-40351609-T-C
• MyVariant Identifiers: chr12:g.40745411T>C (hg19) ; chr12:g.40351609T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40351609T>C , CM000674.2:g.40351609T>C	GRCh38
NC_000012.11:g.40745411T>C , CM000674.1:g.40745411T>C	GRCh37
NC_000012.10:g.39031678T>C	NCBI36
NG_011709.1:g.131599T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.6452T>C MANE Select	ENSP00000298910.7:p.Ile2151Thr
ENST00000636518.1:c.249T>C
ENST00000679360.1:c.*5361T>C	ENSP00000505368.1:n.*5361T>C
ENST00000679532.1:c.2226T>C
ENST00000679683.1:c.242T>C
ENST00000680018.1:c.1897T>C	ENSP00000505347.1:n.1897T>C
ENST00000680422.1:c.2097T>C
ENST00000680425.1:c.1619T>C	ENSP00000506459.1:n.1619T>C
ENST00000680453.1:c.1909T>C
ENST00000680790.1:c.6197T>C	ENSP00000505335.1:p.Ile2066Thr
ENST00000681136.1:n.2436T>C
ENST00000681696.1:c.2135T>C	ENSP00000505871.1:p.Ile712Thr
ENST00000298910.11:c.6452T>C	ENSP00000298910.7:p.Ile2151Thr
ENST00000430804.5:c.3748T>C
ENST00000479187.5:n.3133T>C
NM_198578.3:c.6452T>C	NP_940980.3:p.Ile2151Thr
XM_005268629.2:c.6452T>C	XP_005268686.1:p.Ile2151Thr
XM_011537877.1:c.6452T>C	XP_011536179.1:p.Ile2151Thr
XM_011537878.1:c.6452T>C	XP_011536180.1:p.Ile2151Thr
XM_011537879.1:c.5249T>C	XP_011536181.1:p.Ile1750Thr
XM_005268629.4:c.6452T>C	XP_005268686.1:p.Ile2151Thr
XM_011537877.3:c.6452T>C	XP_011536179.1:p.Ile2151Thr
XM_017018787.1:c.3368T>C	XP_016874276.1:p.Ile1123Thr
XM_017018788.2:c.2714T>C	XP_016874277.1:p.Ile905Thr
XM_024448833.1:c.5249T>C	XP_024304601.1:p.Ile1750Thr
NM_198578.4:c.6452T>C MANE Select	NP_940980.4:p.Ile2151Thr