Canonical Allele Identifier: CA479247606
Gene: LRRK2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.40757336A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.40363534A>C , CM000674.2:g.40363534A>C GRCh38
NC_000012.11:g.40757336A>C , CM000674.1:g.40757336A>C GRCh37
NC_000012.10:g.39043603A>C NCBI36
NG_011709.1:g.143524A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000298910.12:c.7161A>C MANE Select ENSP00000298910.7:p.Ile2387=
ENST00000636518.1:c.958A>C
ENST00000679360.1:c.*6070A>C ENSP00000505368.1:n.*6070A>C
ENST00000679532.1:c.2935A>C
ENST00000679683.1:c.951A>C
ENST00000680018.1:c.2606A>C ENSP00000505347.1:n.2606A>C
ENST00000680422.1:c.4248A>C
ENST00000680425.1:c.2328A>C ENSP00000506459.1:n.2328A>C
ENST00000680453.1:c.2618A>C
ENST00000680790.1:c.6906A>C ENSP00000505335.1:p.Ile2302=
ENST00000681136.1:n.3145A>C
ENST00000681696.1:c.2844A>C ENSP00000505871.1:p.Ile948=
ENST00000681773.1:n.368A>C
ENST00000298910.11:c.7161A>C ENSP00000298910.7:p.Ile2387=
ENST00000430804.5:c.4457A>C
ENST00000479187.5:n.3842A>C
NM_198578.3:c.7161A>C NP_940980.3:p.Ile2387=
XM_005268629.2:c.7161A>C XP_005268686.1:p.Ile2387=
XM_011537877.1:c.7161A>C XP_011536179.1:p.Ile2387=
XM_011537879.1:c.5958A>C XP_011536181.1:p.Ile1986=
XR_944868.1:n.485-8707T>G
XM_005268629.4:c.7161A>C XP_005268686.1:p.Ile2387=
XM_011537877.3:c.7161A>C XP_011536179.1:p.Ile2387=
XM_017018787.1:c.4077A>C XP_016874276.1:p.Ile1359=
XM_017018788.2:c.3423A>C XP_016874277.1:p.Ile1141=
XM_024448833.1:c.5958A>C XP_024304601.1:p.Ile1986=
XR_944868.2:n.485-8707T>G
NM_198578.4:c.7161A>C MANE Select NP_940980.4:p.Ile2387=