Canonical Allele Identifier: CA343638

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 39214
• ClinVar RCV Id: RCV000032488
• dbSNP Id: rs281865053
• MyVariant Identifiers: chr12:g.40717062G>T (hg19) ; chr12:g.40323260G>T (hg38)
• PubMed: PMID:20301387

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40323260G>T , CM000674.2:g.40323260G>T	GRCh38
NC_000012.11:g.40717062G>T , CM000674.1:g.40717062G>T	GRCh37
NC_000012.10:g.39003329G>T	NCBI36
NG_011709.1:g.103250G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000298910.12:c.5610G>T MANE Select	ENSP00000298910.7:p.Leu1870Phe
ENST00000679360.1:c.*4519G>T	ENSP00000505368.1:n.*4519G>T
ENST00000679532.1:c.1384G>T
ENST00000680018.1:c.1055G>T	ENSP00000505347.1:n.1055G>T
ENST00000680422.1:c.1255G>T
ENST00000680425.1:c.777G>T	ENSP00000506459.1:n.777G>T
ENST00000680453.1:c.1067G>T
ENST00000680790.1:c.5355G>T	ENSP00000505335.1:p.Leu1785Phe
ENST00000681136.1:n.1594G>T
ENST00000681696.1:c.1293G>T	ENSP00000505871.1:p.Leu431Phe
ENST00000298910.11:c.5610G>T	ENSP00000298910.7:p.Leu1870Phe
ENST00000430804.5:c.2906G>T
ENST00000479187.5:n.2291G>T
NM_198578.3:c.5610G>T	NP_940980.3:p.Leu1870Phe
XM_005268629.2:c.5610G>T	XP_005268686.1:p.Leu1870Phe
XM_011537877.1:c.5610G>T	XP_011536179.1:p.Leu1870Phe
XM_011537878.1:c.5610G>T	XP_011536180.1:p.Leu1870Phe
XM_011537879.1:c.4407G>T	XP_011536181.1:p.Leu1469Phe
XM_005268629.4:c.5610G>T	XP_005268686.1:p.Leu1870Phe
XM_011537877.3:c.5610G>T	XP_011536179.1:p.Leu1870Phe
XM_017018787.1:c.2526G>T	XP_016874276.1:p.Leu842Phe
XM_017018788.2:c.1872G>T	XP_016874277.1:p.Leu624Phe
XM_024448833.1:c.4407G>T	XP_024304601.1:p.Leu1469Phe
NM_198578.4:c.5610G>T MANE Select	NP_940980.4:p.Leu1870Phe