Canonical Allele Identifier: CA384404154

Gene: LRRK2

Linked Data

• MyVariant Identifiers: chr12:g.40734241T>G (hg19) ; chr12:g.40340439T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40340439T>G , CM000674.2:g.40340439T>G	GRCh38
NC_000012.11:g.40734241T>G , CM000674.1:g.40734241T>G	GRCh37
NC_000012.10:g.39020508T>G	NCBI36
NG_011709.1:g.120429T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.6094T>G MANE Select	ENSP00000298910.7:p.Ser2032Ala
ENST00000679360.1:c.*5003T>G	ENSP00000505368.1:n.*5003T>G
ENST00000679532.1:c.1868T>G
ENST00000680018.1:c.1539T>G	ENSP00000505347.1:n.1539T>G
ENST00000680422.1:c.1739T>G
ENST00000680425.1:c.1261T>G	ENSP00000506459.1:n.1261T>G
ENST00000680453.1:c.1551T>G
ENST00000680790.1:c.5839T>G	ENSP00000505335.1:p.Ser1947Ala
ENST00000681136.1:n.2078T>G
ENST00000681696.1:c.1777T>G	ENSP00000505871.1:p.Ser593Ala
ENST00000298910.11:c.6094T>G	ENSP00000298910.7:p.Ser2032Ala
ENST00000430804.5:c.3390T>G
ENST00000479187.5:n.2775T>G
NM_198578.3:c.6094T>G	NP_940980.3:p.Ser2032Ala
XM_005268629.2:c.6094T>G	XP_005268686.1:p.Ser2032Ala
XM_011537877.1:c.6094T>G	XP_011536179.1:p.Ser2032Ala
XM_011537878.1:c.6094T>G	XP_011536180.1:p.Ser2032Ala
XM_011537879.1:c.4891T>G	XP_011536181.1:p.Ser1631Ala
XM_005268629.4:c.6094T>G	XP_005268686.1:p.Ser2032Ala
XM_011537877.3:c.6094T>G	XP_011536179.1:p.Ser2032Ala
XM_017018787.1:c.3010T>G	XP_016874276.1:p.Ser1004Ala
XM_017018788.2:c.2356T>G	XP_016874277.1:p.Ser786Ala
XM_024448833.1:c.4891T>G	XP_024304601.1:p.Ser1631Ala
NM_198578.4:c.6094T>G MANE Select	NP_940980.4:p.Ser2032Ala