Canonical Allele Identifier: CA235359635

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 798294
• ClinVar RCV Id: RCV000981832 ; RCV002363506
• dbSNP Id: rs199694626
• gnomAD v3: 12-40363465-T-C
• gnomAD v4: 12-40363465-T-C
• MyVariant Identifiers: chr12:g.40757267T>C (hg19) ; chr12:g.40363465T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40363465T>C , CM000674.2:g.40363465T>C	GRCh38
NC_000012.11:g.40757267T>C , CM000674.1:g.40757267T>C	GRCh37
NC_000012.10:g.39043534T>C	NCBI36
NG_011709.1:g.143455T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.7092T>C MANE Select	ENSP00000298910.7:p.Tyr2364=
ENST00000636518.1:c.889T>C
ENST00000679360.1:c.*6001T>C	ENSP00000505368.1:n.*6001T>C
ENST00000679532.1:c.2866T>C
ENST00000679683.1:c.882T>C
ENST00000680018.1:c.2537T>C	ENSP00000505347.1:n.2537T>C
ENST00000680422.1:c.4179T>C
ENST00000680425.1:c.2259T>C	ENSP00000506459.1:n.2259T>C
ENST00000680453.1:c.2549T>C
ENST00000680790.1:c.6837T>C	ENSP00000505335.1:p.Tyr2279=
ENST00000681136.1:n.3076T>C
ENST00000681696.1:c.2775T>C	ENSP00000505871.1:p.Tyr925=
ENST00000681773.1:n.299T>C
ENST00000298910.11:c.7092T>C	ENSP00000298910.7:p.Tyr2364=
ENST00000430804.5:c.4388T>C
ENST00000479187.5:n.3773T>C
NM_198578.3:c.7092T>C	NP_940980.3:p.Tyr2364=
XM_005268629.2:c.7092T>C	XP_005268686.1:p.Tyr2364=
XM_011537877.1:c.7092T>C	XP_011536179.1:p.Tyr2364=
XM_011537879.1:c.5889T>C	XP_011536181.1:p.Tyr1963=
XR_944868.1:n.485-8638A>G
XM_005268629.4:c.7092T>C	XP_005268686.1:p.Tyr2364=
XM_011537877.3:c.7092T>C	XP_011536179.1:p.Tyr2364=
XM_017018787.1:c.4008T>C	XP_016874276.1:p.Tyr1336=
XM_017018788.2:c.3354T>C	XP_016874277.1:p.Tyr1118=
XM_024448833.1:c.5889T>C	XP_024304601.1:p.Tyr1963=
XR_944868.2:n.485-8638A>G
NM_198578.4:c.7092T>C MANE Select	NP_940980.4:p.Tyr2364=