Canonical Allele Identifier: CA384403985

Gene: LRRK2

Linked Data

• MyVariant Identifiers: chr12:g.40734205A>C (hg19) ; chr12:g.40340403A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40340403A>C , CM000674.2:g.40340403A>C	GRCh38
NC_000012.11:g.40734205A>C , CM000674.1:g.40734205A>C	GRCh37
NC_000012.10:g.39020472A>C	NCBI36
NG_011709.1:g.120393A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000298910.12:c.6058A>C MANE Select	ENSP00000298910.7:p.Ile2020Leu
ENST00000679360.1:c.*4967A>C	ENSP00000505368.1:n.*4967A>C
ENST00000679532.1:c.1832A>C
ENST00000680018.1:c.1503A>C	ENSP00000505347.1:n.1503A>C
ENST00000680422.1:c.1703A>C
ENST00000680425.1:c.1225A>C	ENSP00000506459.1:n.1225A>C
ENST00000680453.1:c.1515A>C
ENST00000680790.1:c.5803A>C	ENSP00000505335.1:p.Ile1935Leu
ENST00000681136.1:n.2042A>C
ENST00000681696.1:c.1741A>C	ENSP00000505871.1:p.Ile581Leu
ENST00000298910.11:c.6058A>C	ENSP00000298910.7:p.Ile2020Leu
ENST00000430804.5:c.3354A>C
ENST00000479187.5:n.2739A>C
NM_198578.3:c.6058A>C	NP_940980.3:p.Ile2020Leu
XM_005268629.2:c.6058A>C	XP_005268686.1:p.Ile2020Leu
XM_011537877.1:c.6058A>C	XP_011536179.1:p.Ile2020Leu
XM_011537878.1:c.6058A>C	XP_011536180.1:p.Ile2020Leu
XM_011537879.1:c.4855A>C	XP_011536181.1:p.Ile1619Leu
XM_005268629.4:c.6058A>C	XP_005268686.1:p.Ile2020Leu
XM_011537877.3:c.6058A>C	XP_011536179.1:p.Ile2020Leu
XM_017018787.1:c.2974A>C	XP_016874276.1:p.Ile992Leu
XM_017018788.2:c.2320A>C	XP_016874277.1:p.Ile774Leu
XM_024448833.1:c.4855A>C	XP_024304601.1:p.Ile1619Leu
NM_198578.4:c.6058A>C MANE Select	NP_940980.4:p.Ile2020Leu