Canonical Allele Identifier: CA384407130

Gene: LRRK2

Linked Data

• COSMIC: COSM5700148 ; COSM5700149
• MyVariant Identifiers: chr12:g.40745467G>T (hg19) ; chr12:g.40351665G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40351665G>T , CM000674.2:g.40351665G>T	GRCh38
NC_000012.11:g.40745467G>T , CM000674.1:g.40745467G>T	GRCh37
NC_000012.10:g.39031734G>T	NCBI36
NG_011709.1:g.131655G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.6508G>T MANE Select	ENSP00000298910.7:p.Gly2170Cys
ENST00000636518.1:c.305G>T
ENST00000679360.1:c.*5417G>T	ENSP00000505368.1:n.*5417G>T
ENST00000679532.1:c.2282G>T
ENST00000679683.1:c.298G>T
ENST00000680018.1:c.1953G>T	ENSP00000505347.1:n.1953G>T
ENST00000680422.1:c.2153G>T
ENST00000680425.1:c.1675G>T	ENSP00000506459.1:n.1675G>T
ENST00000680453.1:c.1965G>T
ENST00000680790.1:c.6253G>T	ENSP00000505335.1:p.Gly2085Cys
ENST00000681136.1:n.2492G>T
ENST00000681696.1:c.2191G>T	ENSP00000505871.1:p.Gly731Cys
ENST00000298910.11:c.6508G>T	ENSP00000298910.7:p.Gly2170Cys
ENST00000430804.5:c.3804G>T
ENST00000479187.5:n.3189G>T
NM_198578.3:c.6508G>T	NP_940980.3:p.Gly2170Cys
XM_005268629.2:c.6508G>T	XP_005268686.1:p.Gly2170Cys
XM_011537877.1:c.6508G>T	XP_011536179.1:p.Gly2170Cys
XM_011537878.1:c.6508G>T	XP_011536180.1:p.Gly2170Cys
XM_011537879.1:c.5305G>T	XP_011536181.1:p.Gly1769Cys
XM_005268629.4:c.6508G>T	XP_005268686.1:p.Gly2170Cys
XM_011537877.3:c.6508G>T	XP_011536179.1:p.Gly2170Cys
XM_017018787.1:c.3424G>T	XP_016874276.1:p.Gly1142Cys
XM_017018788.2:c.2770G>T	XP_016874277.1:p.Gly924Cys
XM_024448833.1:c.5305G>T	XP_024304601.1:p.Gly1769Cys
NM_198578.4:c.6508G>T MANE Select	NP_940980.4:p.Gly2170Cys