Canonical Allele Identifier: CA6514881
Gene: LRRK2 HGNC NCBI
COSMIC:
COSM3753218 (not active)
COSM3753219 (not active)
MyVariant.info:
GRCh38 chr12:g.40364850T>C
GRCh37 chr12:g.40758652T>C
Revel Score:
ENST00000298910 (MANE Select) 0.098
gnomAD v2:
12:40758652 T / C
gnomAD v3:
12:40364850 T / C
gnomAD v4:
chr12-40364850-T-C
Joint Max Group AF 0.66799027 (NFE)
Genomes Max Group AF 0.66213444 (NFE)
Exomes Max Group AF 0.66807187 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.40364850T>C , CM000674.2:g.40364850T>C GRCh38
NC_000012.11:g.40758652T>C , CM000674.1:g.40758652T>C GRCh37
NC_000012.10:g.39044919T>C NCBI36
NG_011709.1:g.144840T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000298910.12:c.7190T>C MANE Select ENSP00000298910.7:p.Met2397Thr
ENST00000636518.1:c.987T>C
ENST00000679360.1:c.*6099T>C ENSP00000505368.1:n.*6099T>C
ENST00000679532.1:c.2964T>C
ENST00000679683.1:c.980T>C
ENST00000680018.1:c.2635T>C ENSP00000505347.1:n.2635T>C
ENST00000680422.1:c.4277T>C
ENST00000680425.1:c.2357T>C ENSP00000506459.1:n.2357T>C
ENST00000680453.1:c.2647T>C
ENST00000680790.1:c.6935T>C ENSP00000505335.1:p.Met2312Thr
ENST00000681136.1:n.3174T>C
ENST00000681696.1:c.2873T>C ENSP00000505871.1:p.Met958Thr
ENST00000681773.1:n.397T>C
ENST00000298910.11:c.7190T>C ENSP00000298910.7:p.Met2397Thr
ENST00000430804.5:c.4486T>C
ENST00000479187.5:n.3871T>C
NM_198578.3:c.7190T>C NP_940980.3:p.Met2397Thr
XM_005268629.2:c.7190T>C XP_005268686.1:p.Met2397Thr
XM_011537877.1:c.7190T>C XP_011536179.1:p.Met2397Thr
XM_011537879.1:c.5987T>C XP_011536181.1:p.Met1996Thr
XR_944868.1:n.485-10023A>G
XM_005268629.4:c.7190T>C XP_005268686.1:p.Met2397Thr
XM_011537877.3:c.7190T>C XP_011536179.1:p.Met2397Thr
XM_017018787.1:c.4106T>C XP_016874276.1:p.Met1369Thr
XM_017018788.2:c.3452T>C XP_016874277.1:p.Met1151Thr
XM_024448833.1:c.5987T>C XP_024304601.1:p.Met1996Thr
XR_944868.2:n.485-10023A>G
NM_198578.4:c.7190T>C MANE Select NP_940980.4:p.Met2397Thr
Search 100 bp 5'
Search 100 bp 3'