Canonical Allele Identifier: CA384417978

Gene: LRRK2

Linked Data

• MyVariant Identifiers: chr12:g.40702916G>C (hg19) ; chr12:g.40309114G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40309114G>C , CM000674.2:g.40309114G>C	GRCh38
NC_000012.11:g.40702916G>C , CM000674.1:g.40702916G>C	GRCh37
NC_000012.10:g.38989183G>C	NCBI36
NG_011709.1:g.89104G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000298910.12:c.4198G>C MANE Select	ENSP00000298910.7:p.Glu1400Gln
ENST00000679360.1:c.*3107G>C	ENSP00000505368.1:n.*3107G>C
ENST00000680790.1:c.3943G>C	ENSP00000505335.1:p.Glu1315Gln
ENST00000298910.11:c.4198G>C	ENSP00000298910.7:p.Glu1400Gln
ENST00000430804.5:c.1494G>C
ENST00000479187.5:n.879G>C
NM_198578.3:c.4198G>C	NP_940980.3:p.Glu1400Gln
XM_005268629.2:c.4198G>C	XP_005268686.1:p.Glu1400Gln
XM_011537877.1:c.4198G>C	XP_011536179.1:p.Glu1400Gln
XM_011537878.1:c.4198G>C	XP_011536180.1:p.Glu1400Gln
XM_011537879.1:c.2995G>C	XP_011536181.1:p.Glu999Gln
XM_011537880.1:c.4198G>C	XP_011536182.1:p.Glu1400Gln
XM_011537881.1:c.4198G>C	XP_011536183.1:p.Glu1400Gln
XM_005268629.4:c.4198G>C	XP_005268686.1:p.Glu1400Gln
XM_011537877.3:c.4198G>C	XP_011536179.1:p.Glu1400Gln
XM_011537881.3:c.4198G>C	XP_011536183.1:p.Glu1400Gln
XM_017018786.2:c.4198G>C	XP_016874275.1:p.Glu1400Gln
XM_017018787.1:c.1114G>C	XP_016874276.1:p.Glu372Gln
XM_017018788.2:c.460G>C	XP_016874277.1:p.Glu154Gln
XM_024448833.1:c.2995G>C	XP_024304601.1:p.Glu999Gln
XR_001748574.2:n.4440G>C
NM_198578.4:c.4198G>C MANE Select	NP_940980.4:p.Glu1400Gln