Canonical Allele Identifier: CA384403886

Gene: LRRK2

Linked Data

• MyVariant Identifiers: chr12:g.40734181A>C (hg19) ; chr12:g.40340379A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40340379A>C , CM000674.2:g.40340379A>C	GRCh38
NC_000012.11:g.40734181A>C , CM000674.1:g.40734181A>C	GRCh37
NC_000012.10:g.39020448A>C	NCBI36
NG_011709.1:g.120369A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.6034A>C MANE Select	ENSP00000298910.7:p.Ile2012Leu
ENST00000679360.1:c.*4943A>C	ENSP00000505368.1:n.*4943A>C
ENST00000679532.1:c.1808A>C
ENST00000680018.1:c.1479A>C	ENSP00000505347.1:n.1479A>C
ENST00000680422.1:c.1679A>C
ENST00000680425.1:c.1201A>C	ENSP00000506459.1:n.1201A>C
ENST00000680453.1:c.1491A>C
ENST00000680790.1:c.5779A>C	ENSP00000505335.1:p.Ile1927Leu
ENST00000681136.1:n.2018A>C
ENST00000681696.1:c.1717A>C	ENSP00000505871.1:p.Ile573Leu
ENST00000298910.11:c.6034A>C	ENSP00000298910.7:p.Ile2012Leu
ENST00000430804.5:c.3330A>C
ENST00000479187.5:n.2715A>C
NM_198578.3:c.6034A>C	NP_940980.3:p.Ile2012Leu
XM_005268629.2:c.6034A>C	XP_005268686.1:p.Ile2012Leu
XM_011537877.1:c.6034A>C	XP_011536179.1:p.Ile2012Leu
XM_011537878.1:c.6034A>C	XP_011536180.1:p.Ile2012Leu
XM_011537879.1:c.4831A>C	XP_011536181.1:p.Ile1611Leu
XM_005268629.4:c.6034A>C	XP_005268686.1:p.Ile2012Leu
XM_011537877.3:c.6034A>C	XP_011536179.1:p.Ile2012Leu
XM_017018787.1:c.2950A>C	XP_016874276.1:p.Ile984Leu
XM_017018788.2:c.2296A>C	XP_016874277.1:p.Ile766Leu
XM_024448833.1:c.4831A>C	XP_024304601.1:p.Ile1611Leu
NM_198578.4:c.6034A>C MANE Select	NP_940980.4:p.Ile2012Leu