Canonical Allele Identifier: CA384403488

Gene: LRRK2

Linked Data

• gnomAD v4: 12-40340299-T-C
• MyVariant Identifiers: chr12:g.40734101T>C (hg19) ; chr12:g.40340299T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40340299T>C , CM000674.2:g.40340299T>C	GRCh38
NC_000012.11:g.40734101T>C , CM000674.1:g.40734101T>C	GRCh37
NC_000012.10:g.39020368T>C	NCBI36
NG_011709.1:g.120289T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.5954T>C MANE Select	ENSP00000298910.7:p.Leu1985Pro
ENST00000679360.1:c.*4863T>C	ENSP00000505368.1:n.*4863T>C
ENST00000679532.1:c.1728T>C
ENST00000680018.1:c.1399T>C	ENSP00000505347.1:n.1399T>C
ENST00000680422.1:c.1599T>C
ENST00000680425.1:c.1121T>C	ENSP00000506459.1:n.1121T>C
ENST00000680453.1:c.1411T>C
ENST00000680790.1:c.5699T>C	ENSP00000505335.1:p.Leu1900Pro
ENST00000681136.1:n.1938T>C
ENST00000681696.1:c.1637T>C	ENSP00000505871.1:p.Leu546Pro
ENST00000298910.11:c.5954T>C	ENSP00000298910.7:p.Leu1985Pro
ENST00000430804.5:c.3250T>C
ENST00000479187.5:n.2635T>C
NM_198578.3:c.5954T>C	NP_940980.3:p.Leu1985Pro
XM_005268629.2:c.5954T>C	XP_005268686.1:p.Leu1985Pro
XM_011537877.1:c.5954T>C	XP_011536179.1:p.Leu1985Pro
XM_011537878.1:c.5954T>C	XP_011536180.1:p.Leu1985Pro
XM_011537879.1:c.4751T>C	XP_011536181.1:p.Leu1584Pro
XM_005268629.4:c.5954T>C	XP_005268686.1:p.Leu1985Pro
XM_011537877.3:c.5954T>C	XP_011536179.1:p.Leu1985Pro
XM_017018787.1:c.2870T>C	XP_016874276.1:p.Leu957Pro
XM_017018788.2:c.2216T>C	XP_016874277.1:p.Leu739Pro
XM_024448833.1:c.4751T>C	XP_024304601.1:p.Leu1584Pro
NM_198578.4:c.5954T>C MANE Select	NP_940980.4:p.Leu1985Pro