Canonical Allele Identifier: CA384406430

Gene: LRRK2

Linked Data

• MyVariant Identifiers: chr12:g.40745341G>T (hg19) ; chr12:g.40351539G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40351539G>T , CM000674.2:g.40351539G>T	GRCh38
NC_000012.11:g.40745341G>T , CM000674.1:g.40745341G>T	GRCh37
NC_000012.10:g.39031608G>T	NCBI36
NG_011709.1:g.131529G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.6382G>T MANE Select	ENSP00000298910.7:p.Val2128Phe
ENST00000636518.1:c.179G>T
ENST00000679360.1:c.*5291G>T	ENSP00000505368.1:n.*5291G>T
ENST00000679532.1:c.2156G>T
ENST00000679683.1:c.172G>T
ENST00000680018.1:c.1827G>T	ENSP00000505347.1:n.1827G>T
ENST00000680422.1:c.2027G>T
ENST00000680425.1:c.1549G>T	ENSP00000506459.1:n.1549G>T
ENST00000680453.1:c.1839G>T
ENST00000680790.1:c.6127G>T	ENSP00000505335.1:p.Val2043Phe
ENST00000681136.1:n.2366G>T
ENST00000681696.1:c.2065G>T	ENSP00000505871.1:p.Val689Phe
ENST00000298910.11:c.6382G>T	ENSP00000298910.7:p.Val2128Phe
ENST00000430804.5:c.3678G>T
ENST00000479187.5:n.3063G>T
NM_198578.3:c.6382G>T	NP_940980.3:p.Val2128Phe
XM_005268629.2:c.6382G>T	XP_005268686.1:p.Val2128Phe
XM_011537877.1:c.6382G>T	XP_011536179.1:p.Val2128Phe
XM_011537878.1:c.6382G>T	XP_011536180.1:p.Val2128Phe
XM_011537879.1:c.5179G>T	XP_011536181.1:p.Val1727Phe
XM_005268629.4:c.6382G>T	XP_005268686.1:p.Val2128Phe
XM_011537877.3:c.6382G>T	XP_011536179.1:p.Val2128Phe
XM_017018787.1:c.3298G>T	XP_016874276.1:p.Val1100Phe
XM_017018788.2:c.2644G>T	XP_016874277.1:p.Val882Phe
XM_024448833.1:c.5179G>T	XP_024304601.1:p.Val1727Phe
NM_198578.4:c.6382G>T MANE Select	NP_940980.4:p.Val2128Phe