Canonical Allele Identifier: CA384419702

Gene: LRRK2

Linked Data

• MyVariant Identifiers: chr12:g.40713934A>C (hg19) ; chr12:g.40320132A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40320132A>C , CM000674.2:g.40320132A>C	GRCh38
NC_000012.11:g.40713934A>C , CM000674.1:g.40713934A>C	GRCh37
NC_000012.10:g.39000201A>C	NCBI36
NG_011709.1:g.100122A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.4972A>C MANE Select	ENSP00000298910.7:p.Ile1658Leu
ENST00000679360.1:c.*3881A>C	ENSP00000505368.1:n.*3881A>C
ENST00000679532.1:c.746A>C
ENST00000680018.1:c.417A>C	ENSP00000505347.1:n.417A>C
ENST00000680422.1:c.617A>C
ENST00000680425.1:c.183-902A>C	ENSP00000506459.1:n.183-902A>C
ENST00000680453.1:c.473-902A>C
ENST00000680790.1:c.4717A>C	ENSP00000505335.1:p.Ile1573Leu
ENST00000681136.1:n.956A>C
ENST00000681696.1:c.655A>C	ENSP00000505871.1:p.Ile219Leu
ENST00000298910.11:c.4972A>C	ENSP00000298910.7:p.Ile1658Leu
ENST00000430804.5:c.2268A>C
ENST00000479187.5:n.1653A>C
NM_198578.3:c.4972A>C	NP_940980.3:p.Ile1658Leu
XM_005268629.2:c.4972A>C	XP_005268686.1:p.Ile1658Leu
XM_011537877.1:c.4972A>C	XP_011536179.1:p.Ile1658Leu
XM_011537878.1:c.4972A>C	XP_011536180.1:p.Ile1658Leu
XM_011537879.1:c.3769A>C	XP_011536181.1:p.Ile1257Leu
XM_011537881.1:c.4828-902A>C	XP_011536183.1:n.4828-902A>C
XM_005268629.4:c.4972A>C	XP_005268686.1:p.Ile1658Leu
XM_011537877.3:c.4972A>C	XP_011536179.1:p.Ile1658Leu
XM_011537881.3:c.4828-902A>C	XP_011536183.1:n.4828-902A>C
XM_017018787.1:c.1888A>C	XP_016874276.1:p.Ile630Leu
XM_017018788.2:c.1234A>C	XP_016874277.1:p.Ile412Leu
XM_024448833.1:c.3769A>C	XP_024304601.1:p.Ile1257Leu
XR_001748574.2:n.5340A>C
NM_198578.4:c.4972A>C MANE Select	NP_940980.4:p.Ile1658Leu