Canonical Allele Identifier: CA384418096

Gene: LRRK2

Linked Data

• MyVariant Identifiers: chr12:g.40702970G>T (hg19) ; chr12:g.40309168G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40309168G>T , CM000674.2:g.40309168G>T	GRCh38
NC_000012.11:g.40702970G>T , CM000674.1:g.40702970G>T	GRCh37
NC_000012.10:g.38989237G>T	NCBI36
NG_011709.1:g.89158G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.4252G>T MANE Select	ENSP00000298910.7:p.Val1418Phe
ENST00000679360.1:c.*3161G>T	ENSP00000505368.1:n.*3161G>T
ENST00000680790.1:c.3997G>T	ENSP00000505335.1:p.Val1333Phe
ENST00000298910.11:c.4252G>T	ENSP00000298910.7:p.Val1418Phe
ENST00000430804.5:c.1548G>T
ENST00000479187.5:n.933G>T
NM_198578.3:c.4252G>T	NP_940980.3:p.Val1418Phe
XM_005268629.2:c.4252G>T	XP_005268686.1:p.Val1418Phe
XM_011537877.1:c.4252G>T	XP_011536179.1:p.Val1418Phe
XM_011537878.1:c.4252G>T	XP_011536180.1:p.Val1418Phe
XM_011537879.1:c.3049G>T	XP_011536181.1:p.Val1017Phe
XM_011537880.1:c.4252G>T	XP_011536182.1:p.Val1418Phe
XM_011537881.1:c.4252G>T	XP_011536183.1:p.Val1418Phe
XM_005268629.4:c.4252G>T	XP_005268686.1:p.Val1418Phe
XM_011537877.3:c.4252G>T	XP_011536179.1:p.Val1418Phe
XM_011537881.3:c.4252G>T	XP_011536183.1:p.Val1418Phe
XM_017018786.2:c.4252G>T	XP_016874275.1:p.Val1418Phe
XM_017018787.1:c.1168G>T	XP_016874276.1:p.Val390Phe
XM_017018788.2:c.514G>T	XP_016874277.1:p.Val172Phe
XM_024448833.1:c.3049G>T	XP_024304601.1:p.Val1017Phe
XR_001748574.2:n.4494G>T
NM_198578.4:c.4252G>T MANE Select	NP_940980.4:p.Val1418Phe