Canonical Allele Identifier: CA384409585

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 1764305
• ClinVar RCV Id: RCV002373380
• gnomAD v4: 12-40252994-G-C
• MyVariant Identifiers: chr12:g.40646796G>C (hg19) ; chr12:g.40252994G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40252994G>C , CM000674.2:g.40252994G>C	GRCh38
NC_000012.11:g.40646796G>C , CM000674.1:g.40646796G>C	GRCh37
NC_000012.10:g.38933063G>C	NCBI36
NG_011709.1:g.32984G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000298910.12:c.1266G>C MANE Select	ENSP00000298910.7:p.Leu422Phe
ENST00000679360.1:c.*175G>C	ENSP00000505368.1:n.*175G>C
ENST00000680790.1:c.1266G>C	ENSP00000505335.1:p.Leu422Phe
ENST00000298910.11:c.1266G>C	ENSP00000298910.7:p.Leu422Phe
ENST00000343742.6:c.1266G>C	ENSP00000341930.2:p.Leu422Phe
ENST00000416796.5:c.640G>C	ENSP00000398726.1:p.Val214Leu
NM_198578.3:c.1266G>C	NP_940980.3:p.Leu422Phe
XM_005268629.2:c.1266G>C	XP_005268686.1:p.Leu422Phe
XM_011537877.1:c.1266G>C	XP_011536179.1:p.Leu422Phe
XM_011537878.1:c.1266G>C	XP_011536180.1:p.Leu422Phe
XM_011537879.1:c.63G>C	XP_011536181.1:p.Leu21Phe
XM_011537880.1:c.1266G>C	XP_011536182.1:p.Leu422Phe
XM_011537881.1:c.1266G>C	XP_011536183.1:p.Leu422Phe
XM_011537882.1:c.1266G>C	XP_011536184.1:p.Leu422Phe
XM_005268629.4:c.1266G>C	XP_005268686.1:p.Leu422Phe
XM_011537877.3:c.1266G>C	XP_011536179.1:p.Leu422Phe
XM_011537881.3:c.1266G>C	XP_011536183.1:p.Leu422Phe
XM_011537882.3:c.1266G>C	XP_011536184.1:p.Leu422Phe
XM_017018786.2:c.1266G>C	XP_016874275.1:p.Leu422Phe
XM_017018789.2:c.1266G>C	XP_016874278.1:p.Leu422Phe
XM_024448833.1:c.63G>C	XP_024304601.1:p.Leu21Phe
XR_001748574.2:n.1508G>C
NM_198578.4:c.1266G>C MANE Select	NP_940980.4:p.Leu422Phe