Canonical Allele Identifier: CA384419393

Gene: LRRK2

Linked Data

• MyVariant Identifiers: chr12:g.40713791T>G (hg19) ; chr12:g.40319989T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40319989T>G , CM000674.2:g.40319989T>G	GRCh38
NC_000012.11:g.40713791T>G , CM000674.1:g.40713791T>G	GRCh37
NC_000012.10:g.39000058T>G	NCBI36
NG_011709.1:g.99979T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000298910.12:c.4829T>G MANE Select	ENSP00000298910.7:p.Ile1610Ser
ENST00000679360.1:c.*3738T>G	ENSP00000505368.1:n.*3738T>G
ENST00000679532.1:c.603T>G
ENST00000680018.1:c.274T>G	ENSP00000505347.1:n.274T>G
ENST00000680422.1:c.474T>G
ENST00000680425.1:c.183-1045T>G	ENSP00000506459.1:n.183-1045T>G
ENST00000680453.1:c.473-1045T>G
ENST00000680790.1:c.4574T>G	ENSP00000505335.1:p.Ile1525Ser
ENST00000681136.1:n.813T>G
ENST00000681696.1:c.512T>G	ENSP00000505871.1:p.Ile171Ser
ENST00000298910.11:c.4829T>G	ENSP00000298910.7:p.Ile1610Ser
ENST00000430804.5:c.2125T>G
ENST00000479187.5:n.1510T>G
ENST00000481256.1:n.488T>G
NM_198578.3:c.4829T>G	NP_940980.3:p.Ile1610Ser
XM_005268629.2:c.4829T>G	XP_005268686.1:p.Ile1610Ser
XM_011537877.1:c.4829T>G	XP_011536179.1:p.Ile1610Ser
XM_011537878.1:c.4829T>G	XP_011536180.1:p.Ile1610Ser
XM_011537879.1:c.3626T>G	XP_011536181.1:p.Ile1209Ser
XM_011537881.1:c.4828-1045T>G	XP_011536183.1:n.4828-1045T>G
XM_005268629.4:c.4829T>G	XP_005268686.1:p.Ile1610Ser
XM_011537877.3:c.4829T>G	XP_011536179.1:p.Ile1610Ser
XM_011537881.3:c.4828-1045T>G	XP_011536183.1:n.4828-1045T>G
XM_017018787.1:c.1745T>G	XP_016874276.1:p.Ile582Ser
XM_017018788.2:c.1091T>G	XP_016874277.1:p.Ile364Ser
XM_024448833.1:c.3626T>G	XP_024304601.1:p.Ile1209Ser
XR_001748574.2:n.5197T>G
NM_198578.4:c.4829T>G MANE Select	NP_940980.4:p.Ile1610Ser