Canonical Allele Identifier: CA343673

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 39232
• ClinVar RCV Id: RCV000032506 ; RCV000994898
• dbSNP Id: rs113511708
• ExAC: 12:40757242 C / T
• gnomAD v2: 12-40757242-C-T
• gnomAD v3: 12-40363440-C-T
• gnomAD v4: 12-40363440-C-T
• MyVariant Identifiers: chr12:g.40757242C>T (hg19) ; chr12:g.40363440C>T (hg38)
• PubMed: PMID:20301387

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40363440C>T , CM000674.2:g.40363440C>T	GRCh38
NC_000012.11:g.40757242C>T , CM000674.1:g.40757242C>T	GRCh37
NC_000012.10:g.39043509C>T	NCBI36
NG_011709.1:g.143430C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000298910.12:c.7067C>T MANE Select	ENSP00000298910.7:p.Thr2356Ile
ENST00000636518.1:c.864C>T
ENST00000679360.1:c.*5976C>T	ENSP00000505368.1:n.*5976C>T
ENST00000679532.1:c.2841C>T
ENST00000679683.1:c.857C>T
ENST00000680018.1:c.2512C>T	ENSP00000505347.1:n.2512C>T
ENST00000680422.1:c.4154C>T
ENST00000680425.1:c.2234C>T	ENSP00000506459.1:n.2234C>T
ENST00000680453.1:c.2524C>T
ENST00000680790.1:c.6812C>T	ENSP00000505335.1:p.Thr2271Ile
ENST00000681136.1:n.3051C>T
ENST00000681696.1:c.2750C>T	ENSP00000505871.1:p.Thr917Ile
ENST00000681773.1:n.274C>T
ENST00000298910.11:c.7067C>T	ENSP00000298910.7:p.Thr2356Ile
ENST00000430804.5:c.4363C>T
ENST00000479187.5:n.3748C>T
NM_198578.3:c.7067C>T	NP_940980.3:p.Thr2356Ile
XM_005268629.2:c.7067C>T	XP_005268686.1:p.Thr2356Ile
XM_011537877.1:c.7067C>T	XP_011536179.1:p.Thr2356Ile
XM_011537879.1:c.5864C>T	XP_011536181.1:p.Thr1955Ile
XR_944868.1:n.485-8613G>A
XM_005268629.4:c.7067C>T	XP_005268686.1:p.Thr2356Ile
XM_011537877.3:c.7067C>T	XP_011536179.1:p.Thr2356Ile
XM_017018787.1:c.3983C>T	XP_016874276.1:p.Thr1328Ile
XM_017018788.2:c.3329C>T	XP_016874277.1:p.Thr1110Ile
XM_024448833.1:c.5864C>T	XP_024304601.1:p.Thr1955Ile
XR_944868.2:n.485-8613G>A
NM_198578.4:c.7067C>T MANE Select	NP_940980.4:p.Thr2356Ile