Canonical Allele Identifier: CA479238834

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 1751517
• ClinVar RCV Id: RCV002360065
• gnomAD v4: 12-40340438-A-G
• MyVariant Identifiers: chr12:g.40734240A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40340438A>G , CM000674.2:g.40340438A>G	GRCh38
NC_000012.11:g.40734240A>G , CM000674.1:g.40734240A>G	GRCh37
NC_000012.10:g.39020507A>G	NCBI36
NG_011709.1:g.120428A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000298910.12:c.6093A>G MANE Select	ENSP00000298910.7:p.Thr2031=
ENST00000679360.1:c.*5002A>G	ENSP00000505368.1:n.*5002A>G
ENST00000679532.1:c.1867A>G
ENST00000680018.1:c.1538A>G	ENSP00000505347.1:n.1538A>G
ENST00000680422.1:c.1738A>G
ENST00000680425.1:c.1260A>G	ENSP00000506459.1:n.1260A>G
ENST00000680453.1:c.1550A>G
ENST00000680790.1:c.5838A>G	ENSP00000505335.1:p.Thr1946=
ENST00000681136.1:n.2077A>G
ENST00000681696.1:c.1776A>G	ENSP00000505871.1:p.Thr592=
ENST00000298910.11:c.6093A>G	ENSP00000298910.7:p.Thr2031=
ENST00000430804.5:c.3389A>G
ENST00000479187.5:n.2774A>G
NM_198578.3:c.6093A>G	NP_940980.3:p.Thr2031=
XM_005268629.2:c.6093A>G	XP_005268686.1:p.Thr2031=
XM_011537877.1:c.6093A>G	XP_011536179.1:p.Thr2031=
XM_011537878.1:c.6093A>G	XP_011536180.1:p.Thr2031=
XM_011537879.1:c.4890A>G	XP_011536181.1:p.Thr1630=
XM_005268629.4:c.6093A>G	XP_005268686.1:p.Thr2031=
XM_011537877.3:c.6093A>G	XP_011536179.1:p.Thr2031=
XM_017018787.1:c.3009A>G	XP_016874276.1:p.Thr1003=
XM_017018788.2:c.2355A>G	XP_016874277.1:p.Thr785=
XM_024448833.1:c.4890A>G	XP_024304601.1:p.Thr1630=
NM_198578.4:c.6093A>G MANE Select	NP_940980.4:p.Thr2031=