Canonical Allele Identifier: CA384413209

Gene: LRRK2

Linked Data

• MyVariant Identifiers: chr12:g.40757236T>G (hg19) ; chr12:g.40363434T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40363434T>G , CM000674.2:g.40363434T>G	GRCh38
NC_000012.11:g.40757236T>G , CM000674.1:g.40757236T>G	GRCh37
NC_000012.10:g.39043503T>G	NCBI36
NG_011709.1:g.143424T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000298910.12:c.7061T>G MANE Select	ENSP00000298910.7:p.Ile2354Ser
ENST00000636518.1:c.858T>G
ENST00000679360.1:c.*5970T>G	ENSP00000505368.1:n.*5970T>G
ENST00000679532.1:c.2835T>G
ENST00000679683.1:c.851T>G
ENST00000680018.1:c.2506T>G	ENSP00000505347.1:n.2506T>G
ENST00000680422.1:c.4148T>G
ENST00000680425.1:c.2228T>G	ENSP00000506459.1:n.2228T>G
ENST00000680453.1:c.2518T>G
ENST00000680790.1:c.6806T>G	ENSP00000505335.1:p.Ile2269Ser
ENST00000681136.1:n.3045T>G
ENST00000681696.1:c.2744T>G	ENSP00000505871.1:p.Ile915Ser
ENST00000681773.1:n.268T>G
ENST00000298910.11:c.7061T>G	ENSP00000298910.7:p.Ile2354Ser
ENST00000430804.5:c.4357T>G
ENST00000479187.5:n.3742T>G
NM_198578.3:c.7061T>G	NP_940980.3:p.Ile2354Ser
XM_005268629.2:c.7061T>G	XP_005268686.1:p.Ile2354Ser
XM_011537877.1:c.7061T>G	XP_011536179.1:p.Ile2354Ser
XM_011537879.1:c.5858T>G	XP_011536181.1:p.Ile1953Ser
XR_944868.1:n.485-8607A>C
XM_005268629.4:c.7061T>G	XP_005268686.1:p.Ile2354Ser
XM_011537877.3:c.7061T>G	XP_011536179.1:p.Ile2354Ser
XM_017018787.1:c.3977T>G	XP_016874276.1:p.Ile1326Ser
XM_017018788.2:c.3323T>G	XP_016874277.1:p.Ile1108Ser
XM_024448833.1:c.5858T>G	XP_024304601.1:p.Ile1953Ser
XR_944868.2:n.485-8607A>C
NM_198578.4:c.7061T>G MANE Select	NP_940980.4:p.Ile2354Ser