Canonical Allele Identifier: CA384413324

Gene: LRRK2

Linked Data

• gnomAD v4: 12-40363466-A-T
• MyVariant Identifiers: chr12:g.40757268A>T (hg19) ; chr12:g.40363466A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40363466A>T , CM000674.2:g.40363466A>T	GRCh38
NC_000012.11:g.40757268A>T , CM000674.1:g.40757268A>T	GRCh37
NC_000012.10:g.39043535A>T	NCBI36
NG_011709.1:g.143456A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.7093A>T MANE Select	ENSP00000298910.7:p.Ile2365Phe
ENST00000636518.1:c.890A>T
ENST00000679360.1:c.*6002A>T	ENSP00000505368.1:n.*6002A>T
ENST00000679532.1:c.2867A>T
ENST00000679683.1:c.883A>T
ENST00000680018.1:c.2538A>T	ENSP00000505347.1:n.2538A>T
ENST00000680422.1:c.4180A>T
ENST00000680425.1:c.2260A>T	ENSP00000506459.1:n.2260A>T
ENST00000680453.1:c.2550A>T
ENST00000680790.1:c.6838A>T	ENSP00000505335.1:p.Ile2280Phe
ENST00000681136.1:n.3077A>T
ENST00000681696.1:c.2776A>T	ENSP00000505871.1:p.Ile926Phe
ENST00000681773.1:n.300A>T
ENST00000298910.11:c.7093A>T	ENSP00000298910.7:p.Ile2365Phe
ENST00000430804.5:c.4389A>T
ENST00000479187.5:n.3774A>T
NM_198578.3:c.7093A>T	NP_940980.3:p.Ile2365Phe
XM_005268629.2:c.7093A>T	XP_005268686.1:p.Ile2365Phe
XM_011537877.1:c.7093A>T	XP_011536179.1:p.Ile2365Phe
XM_011537879.1:c.5890A>T	XP_011536181.1:p.Ile1964Phe
XR_944868.1:n.485-8639T>A
XM_005268629.4:c.7093A>T	XP_005268686.1:p.Ile2365Phe
XM_011537877.3:c.7093A>T	XP_011536179.1:p.Ile2365Phe
XM_017018787.1:c.4009A>T	XP_016874276.1:p.Ile1337Phe
XM_017018788.2:c.3355A>T	XP_016874277.1:p.Ile1119Phe
XM_024448833.1:c.5890A>T	XP_024304601.1:p.Ile1964Phe
XR_944868.2:n.485-8639T>A
NM_198578.4:c.7093A>T MANE Select	NP_940980.4:p.Ile2365Phe