Canonical Allele Identifier: CA479241281
Gene: LRRK2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.40745415T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.40351613T>A , CM000674.2:g.40351613T>A GRCh38
NC_000012.11:g.40745415T>A , CM000674.1:g.40745415T>A GRCh37
NC_000012.10:g.39031682T>A NCBI36
NG_011709.1:g.131603T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000298910.12:c.6456T>A MANE Select ENSP00000298910.7:p.Val2152=
ENST00000636518.1:c.253T>A
ENST00000679360.1:c.*5365T>A ENSP00000505368.1:n.*5365T>A
ENST00000679532.1:c.2230T>A
ENST00000679683.1:c.246T>A
ENST00000680018.1:c.1901T>A ENSP00000505347.1:n.1901T>A
ENST00000680422.1:c.2101T>A
ENST00000680425.1:c.1623T>A ENSP00000506459.1:n.1623T>A
ENST00000680453.1:c.1913T>A
ENST00000680790.1:c.6201T>A ENSP00000505335.1:p.Val2067=
ENST00000681136.1:n.2440T>A
ENST00000681696.1:c.2139T>A ENSP00000505871.1:p.Val713=
ENST00000298910.11:c.6456T>A ENSP00000298910.7:p.Val2152=
ENST00000430804.5:c.3752T>A
ENST00000479187.5:n.3137T>A
NM_198578.3:c.6456T>A NP_940980.3:p.Val2152=
XM_005268629.2:c.6456T>A XP_005268686.1:p.Val2152=
XM_011537877.1:c.6456T>A XP_011536179.1:p.Val2152=
XM_011537878.1:c.6456T>A XP_011536180.1:p.Val2152=
XM_011537879.1:c.5253T>A XP_011536181.1:p.Val1751=
XM_005268629.4:c.6456T>A XP_005268686.1:p.Val2152=
XM_011537877.3:c.6456T>A XP_011536179.1:p.Val2152=
XM_017018787.1:c.3372T>A XP_016874276.1:p.Val1124=
XM_017018788.2:c.2718T>A XP_016874277.1:p.Val906=
XM_024448833.1:c.5253T>A XP_024304601.1:p.Val1751=
NM_198578.4:c.6456T>A MANE Select NP_940980.4:p.Val2152=