Canonical Allele Identifier: CA479247641
Gene: LRRK2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.40757345G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.40363543G>C , CM000674.2:g.40363543G>C GRCh38
NC_000012.11:g.40757345G>C , CM000674.1:g.40757345G>C GRCh37
NC_000012.10:g.39043612G>C NCBI36
NG_011709.1:g.143533G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000298910.12:c.7170G>C MANE Select ENSP00000298910.7:p.Val2390=
ENST00000636518.1:c.967G>C
ENST00000679360.1:c.*6079G>C ENSP00000505368.1:n.*6079G>C
ENST00000679532.1:c.2944G>C
ENST00000679683.1:c.960G>C
ENST00000680018.1:c.2615G>C ENSP00000505347.1:n.2615G>C
ENST00000680422.1:c.4257G>C
ENST00000680425.1:c.2337G>C ENSP00000506459.1:n.2337G>C
ENST00000680453.1:c.2627G>C
ENST00000680790.1:c.6915G>C ENSP00000505335.1:p.Val2305=
ENST00000681136.1:n.3154G>C
ENST00000681696.1:c.2853G>C ENSP00000505871.1:p.Val951=
ENST00000681773.1:n.377G>C
ENST00000298910.11:c.7170G>C ENSP00000298910.7:p.Val2390=
ENST00000430804.5:c.4466G>C
ENST00000479187.5:n.3851G>C
NM_198578.3:c.7170G>C NP_940980.3:p.Val2390=
XM_005268629.2:c.7170G>C XP_005268686.1:p.Val2390=
XM_011537877.1:c.7170G>C XP_011536179.1:p.Val2390=
XM_011537879.1:c.5967G>C XP_011536181.1:p.Val1989=
XR_944868.1:n.485-8716C>G
XM_005268629.4:c.7170G>C XP_005268686.1:p.Val2390=
XM_011537877.3:c.7170G>C XP_011536179.1:p.Val2390=
XM_017018787.1:c.4086G>C XP_016874276.1:p.Val1362=
XM_017018788.2:c.3432G>C XP_016874277.1:p.Val1144=
XM_024448833.1:c.5967G>C XP_024304601.1:p.Val1989=
XR_944868.2:n.485-8716C>G
NM_198578.4:c.7170G>C MANE Select NP_940980.4:p.Val2390=