Canonical Allele Identifier: CA384415590

Gene: LRRK2

Linked Data

• dbSNP Id: rs1944524196
• gnomAD v4: 12-40299149-G-T
• MyVariant Identifiers: chr12:g.40692951G>T (hg19) ; chr12:g.40299149G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40299149G>T , CM000674.2:g.40299149G>T	GRCh38
NC_000012.11:g.40692951G>T , CM000674.1:g.40692951G>T	GRCh37
NC_000012.10:g.38979218G>T	NCBI36
NG_011709.1:g.79139G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.3388G>T MANE Select	ENSP00000298910.7:p.Glu1130Ter
ENST00000679360.1:c.*2297G>T	ENSP00000505368.1:n.*2297G>T
ENST00000680790.1:c.3133G>T	ENSP00000505335.1:p.Glu1045Ter
ENST00000298910.11:c.3388G>T	ENSP00000298910.7:p.Glu1130Ter
ENST00000343742.6:c.3388G>T	ENSP00000341930.2:p.Glu1130Ter
ENST00000430804.5:c.432G>T
ENST00000479187.5:n.69G>T
NM_198578.3:c.3388G>T	NP_940980.3:p.Glu1130Ter
XM_005268629.2:c.3388G>T	XP_005268686.1:p.Glu1130Ter
XM_011537877.1:c.3388G>T	XP_011536179.1:p.Glu1130Ter
XM_011537878.1:c.3388G>T	XP_011536180.1:p.Glu1130Ter
XM_011537879.1:c.2185G>T	XP_011536181.1:p.Glu729Ter
XM_011537880.1:c.3388G>T	XP_011536182.1:p.Glu1130Ter
XM_011537881.1:c.3388G>T	XP_011536183.1:p.Glu1130Ter
XM_011537882.1:c.3388G>T	XP_011536184.1:p.Glu1130Ter
XM_005268629.4:c.3388G>T	XP_005268686.1:p.Glu1130Ter
XM_011537877.3:c.3388G>T	XP_011536179.1:p.Glu1130Ter
XM_011537881.3:c.3388G>T	XP_011536183.1:p.Glu1130Ter
XM_011537882.3:c.3388G>T	XP_011536184.1:p.Glu1130Ter
XM_017018786.2:c.3388G>T	XP_016874275.1:p.Glu1130Ter
XM_017018787.1:c.304G>T	XP_016874276.1:p.Glu102Ter
XM_017018789.2:c.3388G>T	XP_016874278.1:p.Glu1130Ter
XM_024448833.1:c.2185G>T	XP_024304601.1:p.Glu729Ter
XR_001748574.2:n.3630G>T
NM_198578.4:c.3388G>T MANE Select	NP_940980.4:p.Glu1130Ter