Canonical Allele Identifier: CA384413327

Gene: LRRK2

Linked Data

• MyVariant Identifiers: chr12:g.40757269T>C (hg19) ; chr12:g.40363467T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40363467T>C , CM000674.2:g.40363467T>C	GRCh38
NC_000012.11:g.40757269T>C , CM000674.1:g.40757269T>C	GRCh37
NC_000012.10:g.39043536T>C	NCBI36
NG_011709.1:g.143457T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.7094T>C MANE Select	ENSP00000298910.7:p.Ile2365Thr
ENST00000636518.1:c.891T>C
ENST00000679360.1:c.*6003T>C	ENSP00000505368.1:n.*6003T>C
ENST00000679532.1:c.2868T>C
ENST00000679683.1:c.884T>C
ENST00000680018.1:c.2539T>C	ENSP00000505347.1:n.2539T>C
ENST00000680422.1:c.4181T>C
ENST00000680425.1:c.2261T>C	ENSP00000506459.1:n.2261T>C
ENST00000680453.1:c.2551T>C
ENST00000680790.1:c.6839T>C	ENSP00000505335.1:p.Ile2280Thr
ENST00000681136.1:n.3078T>C
ENST00000681696.1:c.2777T>C	ENSP00000505871.1:p.Ile926Thr
ENST00000681773.1:n.301T>C
ENST00000298910.11:c.7094T>C	ENSP00000298910.7:p.Ile2365Thr
ENST00000430804.5:c.4390T>C
ENST00000479187.5:n.3775T>C
NM_198578.3:c.7094T>C	NP_940980.3:p.Ile2365Thr
XM_005268629.2:c.7094T>C	XP_005268686.1:p.Ile2365Thr
XM_011537877.1:c.7094T>C	XP_011536179.1:p.Ile2365Thr
XM_011537879.1:c.5891T>C	XP_011536181.1:p.Ile1964Thr
XR_944868.1:n.485-8640A>G
XM_005268629.4:c.7094T>C	XP_005268686.1:p.Ile2365Thr
XM_011537877.3:c.7094T>C	XP_011536179.1:p.Ile2365Thr
XM_017018787.1:c.4010T>C	XP_016874276.1:p.Ile1337Thr
XM_017018788.2:c.3356T>C	XP_016874277.1:p.Ile1119Thr
XM_024448833.1:c.5891T>C	XP_024304601.1:p.Ile1964Thr
XR_944868.2:n.485-8640A>G
NM_198578.4:c.7094T>C MANE Select	NP_940980.4:p.Ile2365Thr