Canonical Allele Identifier: CA384403969

Gene: LRRK2

Linked Data

• dbSNP Id: rs1946004263
• MyVariant Identifiers: chr12:g.40734199T>C (hg19) ; chr12:g.40340397T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40340397T>C , CM000674.2:g.40340397T>C	GRCh38
NC_000012.11:g.40734199T>C , CM000674.1:g.40734199T>C	GRCh37
NC_000012.10:g.39020466T>C	NCBI36
NG_011709.1:g.120387T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.6052T>C MANE Select	ENSP00000298910.7:p.Tyr2018His
ENST00000679360.1:c.*4961T>C	ENSP00000505368.1:n.*4961T>C
ENST00000679532.1:c.1826T>C
ENST00000680018.1:c.1497T>C	ENSP00000505347.1:n.1497T>C
ENST00000680422.1:c.1697T>C
ENST00000680425.1:c.1219T>C	ENSP00000506459.1:n.1219T>C
ENST00000680453.1:c.1509T>C
ENST00000680790.1:c.5797T>C	ENSP00000505335.1:p.Tyr1933His
ENST00000681136.1:n.2036T>C
ENST00000681696.1:c.1735T>C	ENSP00000505871.1:p.Tyr579His
ENST00000298910.11:c.6052T>C	ENSP00000298910.7:p.Tyr2018His
ENST00000430804.5:c.3348T>C
ENST00000479187.5:n.2733T>C
NM_198578.3:c.6052T>C	NP_940980.3:p.Tyr2018His
XM_005268629.2:c.6052T>C	XP_005268686.1:p.Tyr2018His
XM_011537877.1:c.6052T>C	XP_011536179.1:p.Tyr2018His
XM_011537878.1:c.6052T>C	XP_011536180.1:p.Tyr2018His
XM_011537879.1:c.4849T>C	XP_011536181.1:p.Tyr1617His
XM_005268629.4:c.6052T>C	XP_005268686.1:p.Tyr2018His
XM_011537877.3:c.6052T>C	XP_011536179.1:p.Tyr2018His
XM_017018787.1:c.2968T>C	XP_016874276.1:p.Tyr990His
XM_017018788.2:c.2314T>C	XP_016874277.1:p.Tyr772His
XM_024448833.1:c.4849T>C	XP_024304601.1:p.Tyr1617His
NM_198578.4:c.6052T>C MANE Select	NP_940980.4:p.Tyr2018His