Canonical Allele Identifier: CA384413111

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 1756855
• ClinVar RCV Id: RCV002364962
• gnomAD v4: 12-40363419-T-A
• MyVariant Identifiers: chr12:g.40757221T>A (hg19) ; chr12:g.40363419T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40363419T>A , CM000674.2:g.40363419T>A	GRCh38
NC_000012.11:g.40757221T>A , CM000674.1:g.40757221T>A	GRCh37
NC_000012.10:g.39043488T>A	NCBI36
NG_011709.1:g.143409T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.7046T>A MANE Select	ENSP00000298910.7:p.Phe2349Tyr
ENST00000636518.1:c.843T>A
ENST00000679360.1:c.*5955T>A	ENSP00000505368.1:n.*5955T>A
ENST00000679532.1:c.2820T>A
ENST00000679683.1:c.836T>A
ENST00000680018.1:c.2491T>A	ENSP00000505347.1:n.2491T>A
ENST00000680422.1:c.4133T>A
ENST00000680425.1:c.2213T>A	ENSP00000506459.1:n.2213T>A
ENST00000680453.1:c.2503T>A
ENST00000680790.1:c.6791T>A	ENSP00000505335.1:p.Phe2264Tyr
ENST00000681136.1:n.3030T>A
ENST00000681696.1:c.2729T>A	ENSP00000505871.1:p.Phe910Tyr
ENST00000681773.1:n.253T>A
ENST00000298910.11:c.7046T>A	ENSP00000298910.7:p.Phe2349Tyr
ENST00000430804.5:c.4342T>A
ENST00000479187.5:n.3727T>A
NM_198578.3:c.7046T>A	NP_940980.3:p.Phe2349Tyr
XM_005268629.2:c.7046T>A	XP_005268686.1:p.Phe2349Tyr
XM_011537877.1:c.7046T>A	XP_011536179.1:p.Phe2349Tyr
XM_011537879.1:c.5843T>A	XP_011536181.1:p.Phe1948Tyr
XR_944868.1:n.485-8592A>T
XM_005268629.4:c.7046T>A	XP_005268686.1:p.Phe2349Tyr
XM_011537877.3:c.7046T>A	XP_011536179.1:p.Phe2349Tyr
XM_017018787.1:c.3962T>A	XP_016874276.1:p.Phe1321Tyr
XM_017018788.2:c.3308T>A	XP_016874277.1:p.Phe1103Tyr
XM_024448833.1:c.5843T>A	XP_024304601.1:p.Phe1948Tyr
XR_944868.2:n.485-8592A>T
NM_198578.4:c.7046T>A MANE Select	NP_940980.4:p.Phe2349Tyr