Canonical Allele Identifier: CA384413617

Gene: LRRK2

Linked Data

• MyVariant Identifiers: chr12:g.40757348C>A (hg19) ; chr12:g.40363546C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40363546C>A , CM000674.2:g.40363546C>A	GRCh38
NC_000012.11:g.40757348C>A , CM000674.1:g.40757348C>A	GRCh37
NC_000012.10:g.39043615C>A	NCBI36
NG_011709.1:g.143536C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000298910.12:c.7173C>A MANE Select	ENSP00000298910.7:p.His2391Gln
ENST00000636518.1:c.970C>A
ENST00000679360.1:c.*6082C>A	ENSP00000505368.1:n.*6082C>A
ENST00000679532.1:c.2947C>A
ENST00000679683.1:c.963C>A
ENST00000680018.1:c.2618C>A	ENSP00000505347.1:n.2618C>A
ENST00000680422.1:c.4260C>A
ENST00000680425.1:c.2340C>A	ENSP00000506459.1:n.2340C>A
ENST00000680453.1:c.2630C>A
ENST00000680790.1:c.6918C>A	ENSP00000505335.1:p.His2306Gln
ENST00000681136.1:n.3157C>A
ENST00000681696.1:c.2856C>A	ENSP00000505871.1:p.His952Gln
ENST00000681773.1:n.380C>A
ENST00000298910.11:c.7173C>A	ENSP00000298910.7:p.His2391Gln
ENST00000430804.5:c.4469C>A
ENST00000479187.5:n.3854C>A
NM_198578.3:c.7173C>A	NP_940980.3:p.His2391Gln
XM_005268629.2:c.7173C>A	XP_005268686.1:p.His2391Gln
XM_011537877.1:c.7173C>A	XP_011536179.1:p.His2391Gln
XM_011537879.1:c.5970C>A	XP_011536181.1:p.His1990Gln
XR_944868.1:n.485-8719G>T
XM_005268629.4:c.7173C>A	XP_005268686.1:p.His2391Gln
XM_011537877.3:c.7173C>A	XP_011536179.1:p.His2391Gln
XM_017018787.1:c.4089C>A	XP_016874276.1:p.His1363Gln
XM_017018788.2:c.3435C>A	XP_016874277.1:p.His1145Gln
XM_024448833.1:c.5970C>A	XP_024304601.1:p.His1990Gln
XR_944868.2:n.485-8719G>T
NM_198578.4:c.7173C>A MANE Select	NP_940980.4:p.His2391Gln