Canonical Allele Identifier: CA384404133

Gene: LRRK2

Linked Data

• MyVariant Identifiers: chr12:g.40734236A>C (hg19) ; chr12:g.40340434A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40340434A>C , CM000674.2:g.40340434A>C	GRCh38
NC_000012.11:g.40734236A>C , CM000674.1:g.40734236A>C	GRCh37
NC_000012.10:g.39020503A>C	NCBI36
NG_011709.1:g.120424A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000298910.12:c.6089A>C MANE Select	ENSP00000298910.7:p.Lys2030Thr
ENST00000679360.1:c.*4998A>C	ENSP00000505368.1:n.*4998A>C
ENST00000679532.1:c.1863A>C
ENST00000680018.1:c.1534A>C	ENSP00000505347.1:n.1534A>C
ENST00000680422.1:c.1734A>C
ENST00000680425.1:c.1256A>C	ENSP00000506459.1:n.1256A>C
ENST00000680453.1:c.1546A>C
ENST00000680790.1:c.5834A>C	ENSP00000505335.1:p.Lys1945Thr
ENST00000681136.1:n.2073A>C
ENST00000681696.1:c.1772A>C	ENSP00000505871.1:p.Lys591Thr
ENST00000298910.11:c.6089A>C	ENSP00000298910.7:p.Lys2030Thr
ENST00000430804.5:c.3385A>C
ENST00000479187.5:n.2770A>C
NM_198578.3:c.6089A>C	NP_940980.3:p.Lys2030Thr
XM_005268629.2:c.6089A>C	XP_005268686.1:p.Lys2030Thr
XM_011537877.1:c.6089A>C	XP_011536179.1:p.Lys2030Thr
XM_011537878.1:c.6089A>C	XP_011536180.1:p.Lys2030Thr
XM_011537879.1:c.4886A>C	XP_011536181.1:p.Lys1629Thr
XM_005268629.4:c.6089A>C	XP_005268686.1:p.Lys2030Thr
XM_011537877.3:c.6089A>C	XP_011536179.1:p.Lys2030Thr
XM_017018787.1:c.3005A>C	XP_016874276.1:p.Lys1002Thr
XM_017018788.2:c.2351A>C	XP_016874277.1:p.Lys784Thr
XM_024448833.1:c.4886A>C	XP_024304601.1:p.Lys1629Thr
NM_198578.4:c.6089A>C MANE Select	NP_940980.4:p.Lys2030Thr