Canonical Allele Identifier: CA384403938

Gene: LRRK2

Linked Data

• gnomAD v4: 12-40340389-T-C
• MyVariant Identifiers: chr12:g.40734191T>C (hg19) ; chr12:g.40340389T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40340389T>C , CM000674.2:g.40340389T>C	GRCh38
NC_000012.11:g.40734191T>C , CM000674.1:g.40734191T>C	GRCh37
NC_000012.10:g.39020458T>C	NCBI36
NG_011709.1:g.120379T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.6044T>C MANE Select	ENSP00000298910.7:p.Ile2015Thr
ENST00000679360.1:c.*4953T>C	ENSP00000505368.1:n.*4953T>C
ENST00000679532.1:c.1818T>C
ENST00000680018.1:c.1489T>C	ENSP00000505347.1:n.1489T>C
ENST00000680422.1:c.1689T>C
ENST00000680425.1:c.1211T>C	ENSP00000506459.1:n.1211T>C
ENST00000680453.1:c.1501T>C
ENST00000680790.1:c.5789T>C	ENSP00000505335.1:p.Ile1930Thr
ENST00000681136.1:n.2028T>C
ENST00000681696.1:c.1727T>C	ENSP00000505871.1:p.Ile576Thr
ENST00000298910.11:c.6044T>C	ENSP00000298910.7:p.Ile2015Thr
ENST00000430804.5:c.3340T>C
ENST00000479187.5:n.2725T>C
NM_198578.3:c.6044T>C	NP_940980.3:p.Ile2015Thr
XM_005268629.2:c.6044T>C	XP_005268686.1:p.Ile2015Thr
XM_011537877.1:c.6044T>C	XP_011536179.1:p.Ile2015Thr
XM_011537878.1:c.6044T>C	XP_011536180.1:p.Ile2015Thr
XM_011537879.1:c.4841T>C	XP_011536181.1:p.Ile1614Thr
XM_005268629.4:c.6044T>C	XP_005268686.1:p.Ile2015Thr
XM_011537877.3:c.6044T>C	XP_011536179.1:p.Ile2015Thr
XM_017018787.1:c.2960T>C	XP_016874276.1:p.Ile987Thr
XM_017018788.2:c.2306T>C	XP_016874277.1:p.Ile769Thr
XM_024448833.1:c.4841T>C	XP_024304601.1:p.Ile1614Thr
NM_198578.4:c.6044T>C MANE Select	NP_940980.4:p.Ile2015Thr