Canonical Allele Identifier: CA343648

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 39219
• ClinVar RCV Id: RCV000032493
• dbSNP Id: rs78029637
• gnomAD v3: 12-40340436-A-T
• gnomAD v4: 12-40340436-A-T
• MyVariant Identifiers: chr12:g.40734238A>T (hg19) ; chr12:g.40340436A>T (hg38)
• PubMed: PMID:20301387

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40340436A>T , CM000674.2:g.40340436A>T	GRCh38
NC_000012.11:g.40734238A>T , CM000674.1:g.40734238A>T	GRCh37
NC_000012.10:g.39020505A>T	NCBI36
NG_011709.1:g.120426A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000298910.12:c.6091A>T MANE Select	ENSP00000298910.7:p.Thr2031Ser
ENST00000679360.1:c.*5000A>T	ENSP00000505368.1:n.*5000A>T
ENST00000679532.1:c.1865A>T
ENST00000680018.1:c.1536A>T	ENSP00000505347.1:n.1536A>T
ENST00000680422.1:c.1736A>T
ENST00000680425.1:c.1258A>T	ENSP00000506459.1:n.1258A>T
ENST00000680453.1:c.1548A>T
ENST00000680790.1:c.5836A>T	ENSP00000505335.1:p.Thr1946Ser
ENST00000681136.1:n.2075A>T
ENST00000681696.1:c.1774A>T	ENSP00000505871.1:p.Thr592Ser
ENST00000298910.11:c.6091A>T	ENSP00000298910.7:p.Thr2031Ser
ENST00000430804.5:c.3387A>T
ENST00000479187.5:n.2772A>T
NM_198578.3:c.6091A>T	NP_940980.3:p.Thr2031Ser
XM_005268629.2:c.6091A>T	XP_005268686.1:p.Thr2031Ser
XM_011537877.1:c.6091A>T	XP_011536179.1:p.Thr2031Ser
XM_011537878.1:c.6091A>T	XP_011536180.1:p.Thr2031Ser
XM_011537879.1:c.4888A>T	XP_011536181.1:p.Thr1630Ser
XM_005268629.4:c.6091A>T	XP_005268686.1:p.Thr2031Ser
XM_011537877.3:c.6091A>T	XP_011536179.1:p.Thr2031Ser
XM_017018787.1:c.3007A>T	XP_016874276.1:p.Thr1003Ser
XM_017018788.2:c.2353A>T	XP_016874277.1:p.Thr785Ser
XM_024448833.1:c.4888A>T	XP_024304601.1:p.Thr1630Ser
NM_198578.4:c.6091A>T MANE Select	NP_940980.4:p.Thr2031Ser