Canonical Allele Identifier: CA479238488
Gene: LRRK2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.40734141C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.40340339C>T , CM000674.2:g.40340339C>T GRCh38
NC_000012.11:g.40734141C>T , CM000674.1:g.40734141C>T GRCh37
NC_000012.10:g.39020408C>T NCBI36
NG_011709.1:g.120329C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000298910.12:c.5994C>T MANE Select ENSP00000298910.7:p.His1998=
ENST00000679360.1:c.*4903C>T ENSP00000505368.1:n.*4903C>T
ENST00000679532.1:c.1768C>T
ENST00000680018.1:c.1439C>T ENSP00000505347.1:n.1439C>T
ENST00000680422.1:c.1639C>T
ENST00000680425.1:c.1161C>T ENSP00000506459.1:n.1161C>T
ENST00000680453.1:c.1451C>T
ENST00000680790.1:c.5739C>T ENSP00000505335.1:p.His1913=
ENST00000681136.1:n.1978C>T
ENST00000681696.1:c.1677C>T ENSP00000505871.1:p.His559=
ENST00000298910.11:c.5994C>T ENSP00000298910.7:p.His1998=
ENST00000430804.5:c.3290C>T
ENST00000479187.5:n.2675C>T
NM_198578.3:c.5994C>T NP_940980.3:p.His1998=
XM_005268629.2:c.5994C>T XP_005268686.1:p.His1998=
XM_011537877.1:c.5994C>T XP_011536179.1:p.His1998=
XM_011537878.1:c.5994C>T XP_011536180.1:p.His1998=
XM_011537879.1:c.4791C>T XP_011536181.1:p.His1597=
XM_005268629.4:c.5994C>T XP_005268686.1:p.His1998=
XM_011537877.3:c.5994C>T XP_011536179.1:p.His1998=
XM_017018787.1:c.2910C>T XP_016874276.1:p.His970=
XM_017018788.2:c.2256C>T XP_016874277.1:p.His752=
XM_024448833.1:c.4791C>T XP_024304601.1:p.His1597=
NM_198578.4:c.5994C>T MANE Select NP_940980.4:p.His1998=