Canonical Allele Identifier: CA384406653

Gene: LRRK2

Linked Data

• MyVariant Identifiers: chr12:g.40745393T>G (hg19) ; chr12:g.40351591T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40351591T>G , CM000674.2:g.40351591T>G	GRCh38
NC_000012.11:g.40745393T>G , CM000674.1:g.40745393T>G	GRCh37
NC_000012.10:g.39031660T>G	NCBI36
NG_011709.1:g.131581T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000298910.12:c.6434T>G MANE Select	ENSP00000298910.7:p.Leu2145Ter
ENST00000636518.1:c.231T>G
ENST00000679360.1:c.*5343T>G	ENSP00000505368.1:n.*5343T>G
ENST00000679532.1:c.2208T>G
ENST00000679683.1:c.224T>G
ENST00000680018.1:c.1879T>G	ENSP00000505347.1:n.1879T>G
ENST00000680422.1:c.2079T>G
ENST00000680425.1:c.1601T>G	ENSP00000506459.1:n.1601T>G
ENST00000680453.1:c.1891T>G
ENST00000680790.1:c.6179T>G	ENSP00000505335.1:p.Leu2060Ter
ENST00000681136.1:n.2418T>G
ENST00000681696.1:c.2117T>G	ENSP00000505871.1:p.Leu706Ter
ENST00000298910.11:c.6434T>G	ENSP00000298910.7:p.Leu2145Ter
ENST00000430804.5:c.3730T>G
ENST00000479187.5:n.3115T>G
NM_198578.3:c.6434T>G	NP_940980.3:p.Leu2145Ter
XM_005268629.2:c.6434T>G	XP_005268686.1:p.Leu2145Ter
XM_011537877.1:c.6434T>G	XP_011536179.1:p.Leu2145Ter
XM_011537878.1:c.6434T>G	XP_011536180.1:p.Leu2145Ter
XM_011537879.1:c.5231T>G	XP_011536181.1:p.Leu1744Ter
XM_005268629.4:c.6434T>G	XP_005268686.1:p.Leu2145Ter
XM_011537877.3:c.6434T>G	XP_011536179.1:p.Leu2145Ter
XM_017018787.1:c.3350T>G	XP_016874276.1:p.Leu1117Ter
XM_017018788.2:c.2696T>G	XP_016874277.1:p.Leu899Ter
XM_024448833.1:c.5231T>G	XP_024304601.1:p.Leu1744Ter
NM_198578.4:c.6434T>G MANE Select	NP_940980.4:p.Leu2145Ter