Canonical Allele Identifier: CA384413384

Gene: LRRK2

Linked Data

• MyVariant Identifiers: chr12:g.40757284G>C (hg19) ; chr12:g.40363482G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40363482G>C , CM000674.2:g.40363482G>C	GRCh38
NC_000012.11:g.40757284G>C , CM000674.1:g.40757284G>C	GRCh37
NC_000012.10:g.39043551G>C	NCBI36
NG_011709.1:g.143472G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.7109G>C MANE Select	ENSP00000298910.7:p.Ser2370Thr
ENST00000636518.1:c.906G>C
ENST00000679360.1:c.*6018G>C	ENSP00000505368.1:n.*6018G>C
ENST00000679532.1:c.2883G>C
ENST00000679683.1:c.899G>C
ENST00000680018.1:c.2554G>C	ENSP00000505347.1:n.2554G>C
ENST00000680422.1:c.4196G>C
ENST00000680425.1:c.2276G>C	ENSP00000506459.1:n.2276G>C
ENST00000680453.1:c.2566G>C
ENST00000680790.1:c.6854G>C	ENSP00000505335.1:p.Ser2285Thr
ENST00000681136.1:n.3093G>C
ENST00000681696.1:c.2792G>C	ENSP00000505871.1:p.Ser931Thr
ENST00000681773.1:n.316G>C
ENST00000298910.11:c.7109G>C	ENSP00000298910.7:p.Ser2370Thr
ENST00000430804.5:c.4405G>C
ENST00000479187.5:n.3790G>C
NM_198578.3:c.7109G>C	NP_940980.3:p.Ser2370Thr
XM_005268629.2:c.7109G>C	XP_005268686.1:p.Ser2370Thr
XM_011537877.1:c.7109G>C	XP_011536179.1:p.Ser2370Thr
XM_011537879.1:c.5906G>C	XP_011536181.1:p.Ser1969Thr
XR_944868.1:n.485-8655C>G
XM_005268629.4:c.7109G>C	XP_005268686.1:p.Ser2370Thr
XM_011537877.3:c.7109G>C	XP_011536179.1:p.Ser2370Thr
XM_017018787.1:c.4025G>C	XP_016874276.1:p.Ser1342Thr
XM_017018788.2:c.3371G>C	XP_016874277.1:p.Ser1124Thr
XM_024448833.1:c.5906G>C	XP_024304601.1:p.Ser1969Thr
XR_944868.2:n.485-8655C>G
NM_198578.4:c.7109G>C MANE Select	NP_940980.4:p.Ser2370Thr