Canonical Allele Identifier: CA384406672

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 1753519
• ClinVar RCV Id: RCV003638850 ; RCV002361762
• dbSNP Id: rs1374031223
• gnomAD v3: 12-40351596-C-A
• gnomAD v4: 12-40351596-C-A
• MyVariant Identifiers: chr12:g.40745398C>A (hg19) ; chr12:g.40351596C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40351596C>A , CM000674.2:g.40351596C>A	GRCh38
NC_000012.11:g.40745398C>A , CM000674.1:g.40745398C>A	GRCh37
NC_000012.10:g.39031665C>A	NCBI36
NG_011709.1:g.131586C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.6439C>A MANE Select	ENSP00000298910.7:p.Pro2147Thr
ENST00000636518.1:c.236C>A
ENST00000679360.1:c.*5348C>A	ENSP00000505368.1:n.*5348C>A
ENST00000679532.1:c.2213C>A
ENST00000679683.1:c.229C>A
ENST00000680018.1:c.1884C>A	ENSP00000505347.1:n.1884C>A
ENST00000680422.1:c.2084C>A
ENST00000680425.1:c.1606C>A	ENSP00000506459.1:n.1606C>A
ENST00000680453.1:c.1896C>A
ENST00000680790.1:c.6184C>A	ENSP00000505335.1:p.Pro2062Thr
ENST00000681136.1:n.2423C>A
ENST00000681696.1:c.2122C>A	ENSP00000505871.1:p.Pro708Thr
ENST00000298910.11:c.6439C>A	ENSP00000298910.7:p.Pro2147Thr
ENST00000430804.5:c.3735C>A
ENST00000479187.5:n.3120C>A
NM_198578.3:c.6439C>A	NP_940980.3:p.Pro2147Thr
XM_005268629.2:c.6439C>A	XP_005268686.1:p.Pro2147Thr
XM_011537877.1:c.6439C>A	XP_011536179.1:p.Pro2147Thr
XM_011537878.1:c.6439C>A	XP_011536180.1:p.Pro2147Thr
XM_011537879.1:c.5236C>A	XP_011536181.1:p.Pro1746Thr
XM_005268629.4:c.6439C>A	XP_005268686.1:p.Pro2147Thr
XM_011537877.3:c.6439C>A	XP_011536179.1:p.Pro2147Thr
XM_017018787.1:c.3355C>A	XP_016874276.1:p.Pro1119Thr
XM_017018788.2:c.2701C>A	XP_016874277.1:p.Pro901Thr
XM_024448833.1:c.5236C>A	XP_024304601.1:p.Pro1746Thr
NM_198578.4:c.6439C>A MANE Select	NP_940980.4:p.Pro2147Thr