Canonical Allele Identifier: CA479259455
Gene: LRRK2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.40703002T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.40309200T>C , CM000674.2:g.40309200T>C GRCh38
NC_000012.11:g.40703002T>C , CM000674.1:g.40703002T>C GRCh37
NC_000012.10:g.38989269T>C NCBI36
NG_011709.1:g.89190T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000298910.12:c.4284T>C MANE Select ENSP00000298910.7:p.Val1428=
ENST00000679360.1:c.*3193T>C ENSP00000505368.1:n.*3193T>C
ENST00000680790.1:c.4029T>C ENSP00000505335.1:p.Val1343=
ENST00000298910.11:c.4284T>C ENSP00000298910.7:p.Val1428=
ENST00000430804.5:c.1580T>C
ENST00000479187.5:n.965T>C
NM_198578.3:c.4284T>C NP_940980.3:p.Val1428=
XM_005268629.2:c.4284T>C XP_005268686.1:p.Val1428=
XM_011537877.1:c.4284T>C XP_011536179.1:p.Val1428=
XM_011537878.1:c.4284T>C XP_011536180.1:p.Val1428=
XM_011537879.1:c.3081T>C XP_011536181.1:p.Val1027=
XM_011537880.1:c.4284T>C XP_011536182.1:p.Val1428=
XM_011537881.1:c.4284T>C XP_011536183.1:p.Val1428=
XM_005268629.4:c.4284T>C XP_005268686.1:p.Val1428=
XM_011537877.3:c.4284T>C XP_011536179.1:p.Val1428=
XM_011537881.3:c.4284T>C XP_011536183.1:p.Val1428=
XM_017018786.2:c.4284T>C XP_016874275.1:p.Val1428=
XM_017018787.1:c.1200T>C XP_016874276.1:p.Val400=
XM_017018788.2:c.546T>C XP_016874277.1:p.Val182=
XM_024448833.1:c.3081T>C XP_024304601.1:p.Val1027=
XR_001748574.2:n.4526T>C
NM_198578.4:c.4284T>C MANE Select NP_940980.4:p.Val1428=