Canonical Allele Identifier: CA479247317
Gene: LRRK2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.40757258T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.40363456T>C , CM000674.2:g.40363456T>C GRCh38
NC_000012.11:g.40757258T>C , CM000674.1:g.40757258T>C GRCh37
NC_000012.10:g.39043525T>C NCBI36
NG_011709.1:g.143446T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000298910.12:c.7083T>C MANE Select ENSP00000298910.7:p.Thr2361=
ENST00000636518.1:c.880T>C
ENST00000679360.1:c.*5992T>C ENSP00000505368.1:n.*5992T>C
ENST00000679532.1:c.2857T>C
ENST00000679683.1:c.873T>C
ENST00000680018.1:c.2528T>C ENSP00000505347.1:n.2528T>C
ENST00000680422.1:c.4170T>C
ENST00000680425.1:c.2250T>C ENSP00000506459.1:n.2250T>C
ENST00000680453.1:c.2540T>C
ENST00000680790.1:c.6828T>C ENSP00000505335.1:p.Thr2276=
ENST00000681136.1:n.3067T>C
ENST00000681696.1:c.2766T>C ENSP00000505871.1:p.Thr922=
ENST00000681773.1:n.290T>C
ENST00000298910.11:c.7083T>C ENSP00000298910.7:p.Thr2361=
ENST00000430804.5:c.4379T>C
ENST00000479187.5:n.3764T>C
NM_198578.3:c.7083T>C NP_940980.3:p.Thr2361=
XM_005268629.2:c.7083T>C XP_005268686.1:p.Thr2361=
XM_011537877.1:c.7083T>C XP_011536179.1:p.Thr2361=
XM_011537879.1:c.5880T>C XP_011536181.1:p.Thr1960=
XR_944868.1:n.485-8629A>G
XM_005268629.4:c.7083T>C XP_005268686.1:p.Thr2361=
XM_011537877.3:c.7083T>C XP_011536179.1:p.Thr2361=
XM_017018787.1:c.3999T>C XP_016874276.1:p.Thr1333=
XM_017018788.2:c.3345T>C XP_016874277.1:p.Thr1115=
XM_024448833.1:c.5880T>C XP_024304601.1:p.Thr1960=
XR_944868.2:n.485-8629A>G
NM_198578.4:c.7083T>C MANE Select NP_940980.4:p.Thr2361=