Canonical Allele Identifier: CA384407041

Gene: LRRK2

Linked Data

• MyVariant Identifiers: chr12:g.40745455A>T (hg19) ; chr12:g.40351653A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40351653A>T , CM000674.2:g.40351653A>T	GRCh38
NC_000012.11:g.40745455A>T , CM000674.1:g.40745455A>T	GRCh37
NC_000012.10:g.39031722A>T	NCBI36
NG_011709.1:g.131643A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.6496A>T MANE Select	ENSP00000298910.7:p.Ser2166Cys
ENST00000636518.1:c.293A>T
ENST00000679360.1:c.*5405A>T	ENSP00000505368.1:n.*5405A>T
ENST00000679532.1:c.2270A>T
ENST00000679683.1:c.286A>T
ENST00000680018.1:c.1941A>T	ENSP00000505347.1:n.1941A>T
ENST00000680422.1:c.2141A>T
ENST00000680425.1:c.1663A>T	ENSP00000506459.1:n.1663A>T
ENST00000680453.1:c.1953A>T
ENST00000680790.1:c.6241A>T	ENSP00000505335.1:p.Ser2081Cys
ENST00000681136.1:n.2480A>T
ENST00000681696.1:c.2179A>T	ENSP00000505871.1:p.Ser727Cys
ENST00000298910.11:c.6496A>T	ENSP00000298910.7:p.Ser2166Cys
ENST00000430804.5:c.3792A>T
ENST00000479187.5:n.3177A>T
NM_198578.3:c.6496A>T	NP_940980.3:p.Ser2166Cys
XM_005268629.2:c.6496A>T	XP_005268686.1:p.Ser2166Cys
XM_011537877.1:c.6496A>T	XP_011536179.1:p.Ser2166Cys
XM_011537878.1:c.6496A>T	XP_011536180.1:p.Ser2166Cys
XM_011537879.1:c.5293A>T	XP_011536181.1:p.Ser1765Cys
XM_005268629.4:c.6496A>T	XP_005268686.1:p.Ser2166Cys
XM_011537877.3:c.6496A>T	XP_011536179.1:p.Ser2166Cys
XM_017018787.1:c.3412A>T	XP_016874276.1:p.Ser1138Cys
XM_017018788.2:c.2758A>T	XP_016874277.1:p.Ser920Cys
XM_024448833.1:c.5293A>T	XP_024304601.1:p.Ser1765Cys
NM_198578.4:c.6496A>T MANE Select	NP_940980.4:p.Ser2166Cys