Canonical Allele Identifier: CA343577
Gene: LRRK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 39183
ClinVar RCV Id: RCV000032457
dbSNP Id: rs74163686

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.40309225A>C , CM000674.2:g.40309225A>C GRCh38
NC_000012.11:g.40703027A>C , CM000674.1:g.40703027A>C GRCh37
NC_000012.10:g.38989294A>C NCBI36
NG_011709.1:g.89215A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000298910.12:c.4309A>C MANE Select ENSP00000298910.7:p.Asn1437His
ENST00000679360.1:c.*3218A>C ENSP00000505368.1:n.*3218A>C
ENST00000680790.1:c.4054A>C ENSP00000505335.1:p.Asn1352His
ENST00000298910.11:c.4309A>C ENSP00000298910.7:p.Asn1437His
ENST00000430804.5:c.1605A>C
ENST00000479187.5:n.990A>C
NM_198578.3:c.4309A>C NP_940980.3:p.Asn1437His
XM_005268629.2:c.4309A>C XP_005268686.1:p.Asn1437His
XM_011537877.1:c.4309A>C XP_011536179.1:p.Asn1437His
XM_011537878.1:c.4309A>C XP_011536180.1:p.Asn1437His
XM_011537879.1:c.3106A>C XP_011536181.1:p.Asn1036His
XM_011537880.1:c.4309A>C XP_011536182.1:p.Asn1437His
XM_011537881.1:c.4309A>C XP_011536183.1:p.Asn1437His
XM_005268629.4:c.4309A>C XP_005268686.1:p.Asn1437His
XM_011537877.3:c.4309A>C XP_011536179.1:p.Asn1437His
XM_011537881.3:c.4309A>C XP_011536183.1:p.Asn1437His
XM_017018786.2:c.4309A>C XP_016874275.1:p.Asn1437His
XM_017018787.1:c.1225A>C XP_016874276.1:p.Asn409His
XM_017018788.2:c.571A>C XP_016874277.1:p.Asn191His
XM_024448833.1:c.3106A>C XP_024304601.1:p.Asn1036His
XR_001748574.2:n.4551A>C
NM_198578.4:c.4309A>C MANE Select NP_940980.4:p.Asn1437His