Canonical Allele Identifier: CA343646

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 39218
• ClinVar RCV Id: RCV000032492
• dbSNP Id: rs34015634
• ExAC: 12:40734182 T / C
• gnomAD v2: 12-40734182-T-C
• gnomAD v3: 12-40340380-T-C
• gnomAD v4: 12-40340380-T-C
• MyVariant Identifiers: chr12:g.40734182T>C (hg19) ; chr12:g.40340380T>C (hg38)
• PubMed: PMID:20301387

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40340380T>C , CM000674.2:g.40340380T>C	GRCh38
NC_000012.11:g.40734182T>C , CM000674.1:g.40734182T>C	GRCh37
NC_000012.10:g.39020449T>C	NCBI36
NG_011709.1:g.120370T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.6035T>C MANE Select	ENSP00000298910.7:p.Ile2012Thr
ENST00000679360.1:c.*4944T>C	ENSP00000505368.1:n.*4944T>C
ENST00000679532.1:c.1809T>C
ENST00000680018.1:c.1480T>C	ENSP00000505347.1:n.1480T>C
ENST00000680422.1:c.1680T>C
ENST00000680425.1:c.1202T>C	ENSP00000506459.1:n.1202T>C
ENST00000680453.1:c.1492T>C
ENST00000680790.1:c.5780T>C	ENSP00000505335.1:p.Ile1927Thr
ENST00000681136.1:n.2019T>C
ENST00000681696.1:c.1718T>C	ENSP00000505871.1:p.Ile573Thr
ENST00000298910.11:c.6035T>C	ENSP00000298910.7:p.Ile2012Thr
ENST00000430804.5:c.3331T>C
ENST00000479187.5:n.2716T>C
NM_198578.3:c.6035T>C	NP_940980.3:p.Ile2012Thr
XM_005268629.2:c.6035T>C	XP_005268686.1:p.Ile2012Thr
XM_011537877.1:c.6035T>C	XP_011536179.1:p.Ile2012Thr
XM_011537878.1:c.6035T>C	XP_011536180.1:p.Ile2012Thr
XM_011537879.1:c.4832T>C	XP_011536181.1:p.Ile1611Thr
XM_005268629.4:c.6035T>C	XP_005268686.1:p.Ile2012Thr
XM_011537877.3:c.6035T>C	XP_011536179.1:p.Ile2012Thr
XM_017018787.1:c.2951T>C	XP_016874276.1:p.Ile984Thr
XM_017018788.2:c.2297T>C	XP_016874277.1:p.Ile766Thr
XM_024448833.1:c.4832T>C	XP_024304601.1:p.Ile1611Thr
NM_198578.4:c.6035T>C MANE Select	NP_940980.4:p.Ile2012Thr