Canonical Allele Identifier: CA384406655

Gene: LRRK2

Linked Data

• MyVariant Identifiers: chr12:g.40745394A>C (hg19) ; chr12:g.40351592A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40351592A>C , CM000674.2:g.40351592A>C	GRCh38
NC_000012.11:g.40745394A>C , CM000674.1:g.40745394A>C	GRCh37
NC_000012.10:g.39031661A>C	NCBI36
NG_011709.1:g.131582A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.6435A>C MANE Select	ENSP00000298910.7:p.Leu2145Phe
ENST00000636518.1:c.232A>C
ENST00000679360.1:c.*5344A>C	ENSP00000505368.1:n.*5344A>C
ENST00000679532.1:c.2209A>C
ENST00000679683.1:c.225A>C
ENST00000680018.1:c.1880A>C	ENSP00000505347.1:n.1880A>C
ENST00000680422.1:c.2080A>C
ENST00000680425.1:c.1602A>C	ENSP00000506459.1:n.1602A>C
ENST00000680453.1:c.1892A>C
ENST00000680790.1:c.6180A>C	ENSP00000505335.1:p.Leu2060Phe
ENST00000681136.1:n.2419A>C
ENST00000681696.1:c.2118A>C	ENSP00000505871.1:p.Leu706Phe
ENST00000298910.11:c.6435A>C	ENSP00000298910.7:p.Leu2145Phe
ENST00000430804.5:c.3731A>C
ENST00000479187.5:n.3116A>C
NM_198578.3:c.6435A>C	NP_940980.3:p.Leu2145Phe
XM_005268629.2:c.6435A>C	XP_005268686.1:p.Leu2145Phe
XM_011537877.1:c.6435A>C	XP_011536179.1:p.Leu2145Phe
XM_011537878.1:c.6435A>C	XP_011536180.1:p.Leu2145Phe
XM_011537879.1:c.5232A>C	XP_011536181.1:p.Leu1744Phe
XM_005268629.4:c.6435A>C	XP_005268686.1:p.Leu2145Phe
XM_011537877.3:c.6435A>C	XP_011536179.1:p.Leu2145Phe
XM_017018787.1:c.3351A>C	XP_016874276.1:p.Leu1117Phe
XM_017018788.2:c.2697A>C	XP_016874277.1:p.Leu899Phe
XM_024448833.1:c.5232A>C	XP_024304601.1:p.Leu1744Phe
NM_198578.4:c.6435A>C MANE Select	NP_940980.4:p.Leu2145Phe