Canonical Allele Identifier: CA479241485
Gene: LRRK2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.40745451T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.40351649T>C , CM000674.2:g.40351649T>C GRCh38
NC_000012.11:g.40745451T>C , CM000674.1:g.40745451T>C GRCh37
NC_000012.10:g.39031718T>C NCBI36
NG_011709.1:g.131639T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000298910.12:c.6492T>C MANE Select ENSP00000298910.7:p.Asn2164=
ENST00000636518.1:c.289T>C
ENST00000679360.1:c.*5401T>C ENSP00000505368.1:n.*5401T>C
ENST00000679532.1:c.2266T>C
ENST00000679683.1:c.282T>C
ENST00000680018.1:c.1937T>C ENSP00000505347.1:n.1937T>C
ENST00000680422.1:c.2137T>C
ENST00000680425.1:c.1659T>C ENSP00000506459.1:n.1659T>C
ENST00000680453.1:c.1949T>C
ENST00000680790.1:c.6237T>C ENSP00000505335.1:p.Asn2079=
ENST00000681136.1:n.2476T>C
ENST00000681696.1:c.2175T>C ENSP00000505871.1:p.Asn725=
ENST00000298910.11:c.6492T>C ENSP00000298910.7:p.Asn2164=
ENST00000430804.5:c.3788T>C
ENST00000479187.5:n.3173T>C
NM_198578.3:c.6492T>C NP_940980.3:p.Asn2164=
XM_005268629.2:c.6492T>C XP_005268686.1:p.Asn2164=
XM_011537877.1:c.6492T>C XP_011536179.1:p.Asn2164=
XM_011537878.1:c.6492T>C XP_011536180.1:p.Asn2164=
XM_011537879.1:c.5289T>C XP_011536181.1:p.Asn1763=
XM_005268629.4:c.6492T>C XP_005268686.1:p.Asn2164=
XM_011537877.3:c.6492T>C XP_011536179.1:p.Asn2164=
XM_017018787.1:c.3408T>C XP_016874276.1:p.Asn1136=
XM_017018788.2:c.2754T>C XP_016874277.1:p.Asn918=
XM_024448833.1:c.5289T>C XP_024304601.1:p.Asn1763=
NM_198578.4:c.6492T>C MANE Select NP_940980.4:p.Asn2164=