Canonical Allele Identifier: CA384413530

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 2587289
• ClinVar RCV Id: RCV003350653
• MyVariant Identifiers: chr12:g.40757322C>T (hg19) ; chr12:g.40363520C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40363520C>T , CM000674.2:g.40363520C>T	GRCh38
NC_000012.11:g.40757322C>T , CM000674.1:g.40757322C>T	GRCh37
NC_000012.10:g.39043589C>T	NCBI36
NG_011709.1:g.143510C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.7147C>T MANE Select	ENSP00000298910.7:p.Leu2383Phe
ENST00000636518.1:c.944C>T
ENST00000679360.1:c.*6056C>T	ENSP00000505368.1:n.*6056C>T
ENST00000679532.1:c.2921C>T
ENST00000679683.1:c.937C>T
ENST00000680018.1:c.2592C>T	ENSP00000505347.1:n.2592C>T
ENST00000680422.1:c.4234C>T
ENST00000680425.1:c.2314C>T	ENSP00000506459.1:n.2314C>T
ENST00000680453.1:c.2604C>T
ENST00000680790.1:c.6892C>T	ENSP00000505335.1:p.Leu2298Phe
ENST00000681136.1:n.3131C>T
ENST00000681696.1:c.2830C>T	ENSP00000505871.1:p.Leu944Phe
ENST00000681773.1:n.354C>T
ENST00000298910.11:c.7147C>T	ENSP00000298910.7:p.Leu2383Phe
ENST00000430804.5:c.4443C>T
ENST00000479187.5:n.3828C>T
NM_198578.3:c.7147C>T	NP_940980.3:p.Leu2383Phe
XM_005268629.2:c.7147C>T	XP_005268686.1:p.Leu2383Phe
XM_011537877.1:c.7147C>T	XP_011536179.1:p.Leu2383Phe
XM_011537879.1:c.5944C>T	XP_011536181.1:p.Leu1982Phe
XR_944868.1:n.485-8693G>A
XM_005268629.4:c.7147C>T	XP_005268686.1:p.Leu2383Phe
XM_011537877.3:c.7147C>T	XP_011536179.1:p.Leu2383Phe
XM_017018787.1:c.4063C>T	XP_016874276.1:p.Leu1355Phe
XM_017018788.2:c.3409C>T	XP_016874277.1:p.Leu1137Phe
XM_024448833.1:c.5944C>T	XP_024304601.1:p.Leu1982Phe
XR_944868.2:n.485-8693G>A
NM_198578.4:c.7147C>T MANE Select	NP_940980.4:p.Leu2383Phe