Canonical Allele Identifier: CA384413222

Gene: LRRK2

Linked Data

• gnomAD v4: 12-40363437-T-A
• MyVariant Identifiers: chr12:g.40757239T>A (hg19) ; chr12:g.40363437T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40363437T>A , CM000674.2:g.40363437T>A	GRCh38
NC_000012.11:g.40757239T>A , CM000674.1:g.40757239T>A	GRCh37
NC_000012.10:g.39043506T>A	NCBI36
NG_011709.1:g.143427T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000298910.12:c.7064T>A MANE Select	ENSP00000298910.7:p.Ile2355Lys
ENST00000636518.1:c.861T>A
ENST00000679360.1:c.*5973T>A	ENSP00000505368.1:n.*5973T>A
ENST00000679532.1:c.2838T>A
ENST00000679683.1:c.854T>A
ENST00000680018.1:c.2509T>A	ENSP00000505347.1:n.2509T>A
ENST00000680422.1:c.4151T>A
ENST00000680425.1:c.2231T>A	ENSP00000506459.1:n.2231T>A
ENST00000680453.1:c.2521T>A
ENST00000680790.1:c.6809T>A	ENSP00000505335.1:p.Ile2270Lys
ENST00000681136.1:n.3048T>A
ENST00000681696.1:c.2747T>A	ENSP00000505871.1:p.Ile916Lys
ENST00000681773.1:n.271T>A
ENST00000298910.11:c.7064T>A	ENSP00000298910.7:p.Ile2355Lys
ENST00000430804.5:c.4360T>A
ENST00000479187.5:n.3745T>A
NM_198578.3:c.7064T>A	NP_940980.3:p.Ile2355Lys
XM_005268629.2:c.7064T>A	XP_005268686.1:p.Ile2355Lys
XM_011537877.1:c.7064T>A	XP_011536179.1:p.Ile2355Lys
XM_011537879.1:c.5861T>A	XP_011536181.1:p.Ile1954Lys
XR_944868.1:n.485-8610A>T
XM_005268629.4:c.7064T>A	XP_005268686.1:p.Ile2355Lys
XM_011537877.3:c.7064T>A	XP_011536179.1:p.Ile2355Lys
XM_017018787.1:c.3980T>A	XP_016874276.1:p.Ile1327Lys
XM_017018788.2:c.3326T>A	XP_016874277.1:p.Ile1109Lys
XM_024448833.1:c.5861T>A	XP_024304601.1:p.Ile1954Lys
XR_944868.2:n.485-8610A>T
NM_198578.4:c.7064T>A MANE Select	NP_940980.4:p.Ile2355Lys