Canonical Allele Identifier: CA384413612

Gene: LRRK2

Linked Data

• gnomAD v4: 12-40363545-A-C
• MyVariant Identifiers: chr12:g.40757347A>C (hg19) ; chr12:g.40363545A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40363545A>C , CM000674.2:g.40363545A>C	GRCh38
NC_000012.11:g.40757347A>C , CM000674.1:g.40757347A>C	GRCh37
NC_000012.10:g.39043614A>C	NCBI36
NG_011709.1:g.143535A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000298910.12:c.7172A>C MANE Select	ENSP00000298910.7:p.His2391Pro
ENST00000636518.1:c.969A>C
ENST00000679360.1:c.*6081A>C	ENSP00000505368.1:n.*6081A>C
ENST00000679532.1:c.2946A>C
ENST00000679683.1:c.962A>C
ENST00000680018.1:c.2617A>C	ENSP00000505347.1:n.2617A>C
ENST00000680422.1:c.4259A>C
ENST00000680425.1:c.2339A>C	ENSP00000506459.1:n.2339A>C
ENST00000680453.1:c.2629A>C
ENST00000680790.1:c.6917A>C	ENSP00000505335.1:p.His2306Pro
ENST00000681136.1:n.3156A>C
ENST00000681696.1:c.2855A>C	ENSP00000505871.1:p.His952Pro
ENST00000681773.1:n.379A>C
ENST00000298910.11:c.7172A>C	ENSP00000298910.7:p.His2391Pro
ENST00000430804.5:c.4468A>C
ENST00000479187.5:n.3853A>C
NM_198578.3:c.7172A>C	NP_940980.3:p.His2391Pro
XM_005268629.2:c.7172A>C	XP_005268686.1:p.His2391Pro
XM_011537877.1:c.7172A>C	XP_011536179.1:p.His2391Pro
XM_011537879.1:c.5969A>C	XP_011536181.1:p.His1990Pro
XR_944868.1:n.485-8718T>G
XM_005268629.4:c.7172A>C	XP_005268686.1:p.His2391Pro
XM_011537877.3:c.7172A>C	XP_011536179.1:p.His2391Pro
XM_017018787.1:c.4088A>C	XP_016874276.1:p.His1363Pro
XM_017018788.2:c.3434A>C	XP_016874277.1:p.His1145Pro
XM_024448833.1:c.5969A>C	XP_024304601.1:p.His1990Pro
XR_944868.2:n.485-8718T>G
NM_198578.4:c.7172A>C MANE Select	NP_940980.4:p.His2391Pro