Canonical Allele Identifier: CA384406558

Gene: LRRK2

Linked Data

• MyVariant Identifiers: chr12:g.40745370A>T (hg19) ; chr12:g.40351568A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40351568A>T , CM000674.2:g.40351568A>T	GRCh38
NC_000012.11:g.40745370A>T , CM000674.1:g.40745370A>T	GRCh37
NC_000012.10:g.39031637A>T	NCBI36
NG_011709.1:g.131558A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.6411A>T MANE Select	ENSP00000298910.7:p.Leu2137Phe
ENST00000636518.1:c.208A>T
ENST00000679360.1:c.*5320A>T	ENSP00000505368.1:n.*5320A>T
ENST00000679532.1:c.2185A>T
ENST00000679683.1:c.201A>T
ENST00000680018.1:c.1856A>T	ENSP00000505347.1:n.1856A>T
ENST00000680422.1:c.2056A>T
ENST00000680425.1:c.1578A>T	ENSP00000506459.1:n.1578A>T
ENST00000680453.1:c.1868A>T
ENST00000680790.1:c.6156A>T	ENSP00000505335.1:p.Leu2052Phe
ENST00000681136.1:n.2395A>T
ENST00000681696.1:c.2094A>T	ENSP00000505871.1:p.Leu698Phe
ENST00000298910.11:c.6411A>T	ENSP00000298910.7:p.Leu2137Phe
ENST00000430804.5:c.3707A>T
ENST00000479187.5:n.3092A>T
NM_198578.3:c.6411A>T	NP_940980.3:p.Leu2137Phe
XM_005268629.2:c.6411A>T	XP_005268686.1:p.Leu2137Phe
XM_011537877.1:c.6411A>T	XP_011536179.1:p.Leu2137Phe
XM_011537878.1:c.6411A>T	XP_011536180.1:p.Leu2137Phe
XM_011537879.1:c.5208A>T	XP_011536181.1:p.Leu1736Phe
XM_005268629.4:c.6411A>T	XP_005268686.1:p.Leu2137Phe
XM_011537877.3:c.6411A>T	XP_011536179.1:p.Leu2137Phe
XM_017018787.1:c.3327A>T	XP_016874276.1:p.Leu1109Phe
XM_017018788.2:c.2673A>T	XP_016874277.1:p.Leu891Phe
XM_024448833.1:c.5208A>T	XP_024304601.1:p.Leu1736Phe
NM_198578.4:c.6411A>T MANE Select	NP_940980.4:p.Leu2137Phe