Canonical Allele Identifier: CA343537
Gene: LRRK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 39163
dbSNP Id: rs78365431

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.40298479G>T , CM000674.2:g.40298479G>T GRCh38
NC_000012.11:g.40692281G>T , CM000674.1:g.40692281G>T GRCh37
NC_000012.10:g.38978548G>T NCBI36
NG_011709.1:g.78469G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000298910.12:c.3333G>T MANE Select ENSP00000298910.7:p.Gln1111His
ENST00000679360.1:c.*2242G>T ENSP00000505368.1:n.*2242G>T
ENST00000680790.1:c.3078G>T ENSP00000505335.1:p.Gln1026His
ENST00000298910.11:c.3333G>T ENSP00000298910.7:p.Gln1111His
ENST00000343742.6:c.3333G>T ENSP00000341930.2:p.Gln1111His
ENST00000430804.5:c.377G>T
ENST00000479187.5:n.14G>T
NM_198578.3:c.3333G>T NP_940980.3:p.Gln1111His
XM_005268629.2:c.3333G>T XP_005268686.1:p.Gln1111His
XM_011537877.1:c.3333G>T XP_011536179.1:p.Gln1111His
XM_011537878.1:c.3333G>T XP_011536180.1:p.Gln1111His
XM_011537879.1:c.2130G>T XP_011536181.1:p.Gln710His
XM_011537880.1:c.3333G>T XP_011536182.1:p.Gln1111His
XM_011537881.1:c.3333G>T XP_011536183.1:p.Gln1111His
XM_011537882.1:c.3333G>T XP_011536184.1:p.Gln1111His
XM_005268629.4:c.3333G>T XP_005268686.1:p.Gln1111His
XM_011537877.3:c.3333G>T XP_011536179.1:p.Gln1111His
XM_011537881.3:c.3333G>T XP_011536183.1:p.Gln1111His
XM_011537882.3:c.3333G>T XP_011536184.1:p.Gln1111His
XM_017018786.2:c.3333G>T XP_016874275.1:p.Gln1111His
XM_017018787.1:c.249G>T XP_016874276.1:p.Gln83His
XM_017018789.2:c.3333G>T XP_016874278.1:p.Gln1111His
XM_024448833.1:c.2130G>T XP_024304601.1:p.Gln710His
XR_001748574.2:n.3575G>T
NM_198578.4:c.3333G>T MANE Select NP_940980.4:p.Gln1111His