Canonical Allele Identifier: CA384413030

Gene: LRRK2

Linked Data

• MyVariant Identifiers: chr12:g.40757205T>C (hg19) ; chr12:g.40363403T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40363403T>C , CM000674.2:g.40363403T>C	GRCh38
NC_000012.11:g.40757205T>C , CM000674.1:g.40757205T>C	GRCh37
NC_000012.10:g.39043472T>C	NCBI36
NG_011709.1:g.143393T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.7030T>C MANE Select	ENSP00000298910.7:p.Phe2344Leu
ENST00000636518.1:c.827T>C
ENST00000679360.1:c.*5939T>C	ENSP00000505368.1:n.*5939T>C
ENST00000679532.1:c.2804T>C
ENST00000679683.1:c.820T>C
ENST00000680018.1:c.2475T>C	ENSP00000505347.1:n.2475T>C
ENST00000680422.1:c.4117T>C
ENST00000680425.1:c.2197T>C	ENSP00000506459.1:n.2197T>C
ENST00000680453.1:c.2487T>C
ENST00000680790.1:c.6775T>C	ENSP00000505335.1:p.Phe2259Leu
ENST00000681136.1:n.3014T>C
ENST00000681696.1:c.2713T>C	ENSP00000505871.1:p.Phe905Leu
ENST00000681773.1:n.237T>C
ENST00000298910.11:c.7030T>C	ENSP00000298910.7:p.Phe2344Leu
ENST00000430804.5:c.4326T>C
ENST00000479187.5:n.3711T>C
NM_198578.3:c.7030T>C	NP_940980.3:p.Phe2344Leu
XM_005268629.2:c.7030T>C	XP_005268686.1:p.Phe2344Leu
XM_011537877.1:c.7030T>C	XP_011536179.1:p.Phe2344Leu
XM_011537879.1:c.5827T>C	XP_011536181.1:p.Phe1943Leu
XR_944868.1:n.485-8576A>G
XM_005268629.4:c.7030T>C	XP_005268686.1:p.Phe2344Leu
XM_011537877.3:c.7030T>C	XP_011536179.1:p.Phe2344Leu
XM_017018787.1:c.3946T>C	XP_016874276.1:p.Phe1316Leu
XM_017018788.2:c.3292T>C	XP_016874277.1:p.Phe1098Leu
XM_024448833.1:c.5827T>C	XP_024304601.1:p.Phe1943Leu
XR_944868.2:n.485-8576A>G
NM_198578.4:c.7030T>C MANE Select	NP_940980.4:p.Phe2344Leu