Canonical Allele Identifier: CA384413564

Gene: LRRK2

Linked Data

• MyVariant Identifiers: chr12:g.40757334A>C (hg19) ; chr12:g.40363532A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40363532A>C , CM000674.2:g.40363532A>C	GRCh38
NC_000012.11:g.40757334A>C , CM000674.1:g.40757334A>C	GRCh37
NC_000012.10:g.39043601A>C	NCBI36
NG_011709.1:g.143522A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000298910.12:c.7159A>C MANE Select	ENSP00000298910.7:p.Ile2387Leu
ENST00000636518.1:c.956A>C
ENST00000679360.1:c.*6068A>C	ENSP00000505368.1:n.*6068A>C
ENST00000679532.1:c.2933A>C
ENST00000679683.1:c.949A>C
ENST00000680018.1:c.2604A>C	ENSP00000505347.1:n.2604A>C
ENST00000680422.1:c.4246A>C
ENST00000680425.1:c.2326A>C	ENSP00000506459.1:n.2326A>C
ENST00000680453.1:c.2616A>C
ENST00000680790.1:c.6904A>C	ENSP00000505335.1:p.Ile2302Leu
ENST00000681136.1:n.3143A>C
ENST00000681696.1:c.2842A>C	ENSP00000505871.1:p.Ile948Leu
ENST00000681773.1:n.366A>C
ENST00000298910.11:c.7159A>C	ENSP00000298910.7:p.Ile2387Leu
ENST00000430804.5:c.4455A>C
ENST00000479187.5:n.3840A>C
NM_198578.3:c.7159A>C	NP_940980.3:p.Ile2387Leu
XM_005268629.2:c.7159A>C	XP_005268686.1:p.Ile2387Leu
XM_011537877.1:c.7159A>C	XP_011536179.1:p.Ile2387Leu
XM_011537879.1:c.5956A>C	XP_011536181.1:p.Ile1986Leu
XR_944868.1:n.485-8705T>G
XM_005268629.4:c.7159A>C	XP_005268686.1:p.Ile2387Leu
XM_011537877.3:c.7159A>C	XP_011536179.1:p.Ile2387Leu
XM_017018787.1:c.4075A>C	XP_016874276.1:p.Ile1359Leu
XM_017018788.2:c.3421A>C	XP_016874277.1:p.Ile1141Leu
XM_024448833.1:c.5956A>C	XP_024304601.1:p.Ile1986Leu
XR_944868.2:n.485-8705T>G
NM_198578.4:c.7159A>C MANE Select	NP_940980.4:p.Ile2387Leu