Canonical Allele Identifier: CA479238428
Gene: LRRK2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.40734120A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.40340318A>C , CM000674.2:g.40340318A>C GRCh38
NC_000012.11:g.40734120A>C , CM000674.1:g.40734120A>C GRCh37
NC_000012.10:g.39020387A>C NCBI36
NG_011709.1:g.120308A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000298910.12:c.5973A>C MANE Select ENSP00000298910.7:p.Ile1991=
ENST00000679360.1:c.*4882A>C ENSP00000505368.1:n.*4882A>C
ENST00000679532.1:c.1747A>C
ENST00000680018.1:c.1418A>C ENSP00000505347.1:n.1418A>C
ENST00000680422.1:c.1618A>C
ENST00000680425.1:c.1140A>C ENSP00000506459.1:n.1140A>C
ENST00000680453.1:c.1430A>C
ENST00000680790.1:c.5718A>C ENSP00000505335.1:p.Ile1906=
ENST00000681136.1:n.1957A>C
ENST00000681696.1:c.1656A>C ENSP00000505871.1:p.Ile552=
ENST00000298910.11:c.5973A>C ENSP00000298910.7:p.Ile1991=
ENST00000430804.5:c.3269A>C
ENST00000479187.5:n.2654A>C
NM_198578.3:c.5973A>C NP_940980.3:p.Ile1991=
XM_005268629.2:c.5973A>C XP_005268686.1:p.Ile1991=
XM_011537877.1:c.5973A>C XP_011536179.1:p.Ile1991=
XM_011537878.1:c.5973A>C XP_011536180.1:p.Ile1991=
XM_011537879.1:c.4770A>C XP_011536181.1:p.Ile1590=
XM_005268629.4:c.5973A>C XP_005268686.1:p.Ile1991=
XM_011537877.3:c.5973A>C XP_011536179.1:p.Ile1991=
XM_017018787.1:c.2889A>C XP_016874276.1:p.Ile963=
XM_017018788.2:c.2235A>C XP_016874277.1:p.Ile745=
XM_024448833.1:c.4770A>C XP_024304601.1:p.Ile1590=
NM_198578.4:c.5973A>C MANE Select NP_940980.4:p.Ile1991=