Canonical Allele Identifier: CA384403977

Gene: LRRK2

Linked Data

• MyVariant Identifiers: chr12:g.40734201C>A (hg19) ; chr12:g.40340399C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40340399C>A , CM000674.2:g.40340399C>A	GRCh38
NC_000012.11:g.40734201C>A , CM000674.1:g.40734201C>A	GRCh37
NC_000012.10:g.39020468C>A	NCBI36
NG_011709.1:g.120389C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.6054C>A MANE Select	ENSP00000298910.7:p.Tyr2018Ter
ENST00000679360.1:c.*4963C>A	ENSP00000505368.1:n.*4963C>A
ENST00000679532.1:c.1828C>A
ENST00000680018.1:c.1499C>A	ENSP00000505347.1:n.1499C>A
ENST00000680422.1:c.1699C>A
ENST00000680425.1:c.1221C>A	ENSP00000506459.1:n.1221C>A
ENST00000680453.1:c.1511C>A
ENST00000680790.1:c.5799C>A	ENSP00000505335.1:p.Tyr1933Ter
ENST00000681136.1:n.2038C>A
ENST00000681696.1:c.1737C>A	ENSP00000505871.1:p.Tyr579Ter
ENST00000298910.11:c.6054C>A	ENSP00000298910.7:p.Tyr2018Ter
ENST00000430804.5:c.3350C>A
ENST00000479187.5:n.2735C>A
NM_198578.3:c.6054C>A	NP_940980.3:p.Tyr2018Ter
XM_005268629.2:c.6054C>A	XP_005268686.1:p.Tyr2018Ter
XM_011537877.1:c.6054C>A	XP_011536179.1:p.Tyr2018Ter
XM_011537878.1:c.6054C>A	XP_011536180.1:p.Tyr2018Ter
XM_011537879.1:c.4851C>A	XP_011536181.1:p.Tyr1617Ter
XM_005268629.4:c.6054C>A	XP_005268686.1:p.Tyr2018Ter
XM_011537877.3:c.6054C>A	XP_011536179.1:p.Tyr2018Ter
XM_017018787.1:c.2970C>A	XP_016874276.1:p.Tyr990Ter
XM_017018788.2:c.2316C>A	XP_016874277.1:p.Tyr772Ter
XM_024448833.1:c.4851C>A	XP_024304601.1:p.Tyr1617Ter
NM_198578.4:c.6054C>A MANE Select	NP_940980.4:p.Tyr2018Ter