Canonical Allele Identifier: CA384419670

Gene: LRRK2

Linked Data

• MyVariant Identifiers: chr12:g.40713922G>C (hg19) ; chr12:g.40320120G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40320120G>C , CM000674.2:g.40320120G>C	GRCh38
NC_000012.11:g.40713922G>C , CM000674.1:g.40713922G>C	GRCh37
NC_000012.10:g.39000189G>C	NCBI36
NG_011709.1:g.100110G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.4960G>C MANE Select	ENSP00000298910.7:p.Glu1654Gln
ENST00000679360.1:c.*3869G>C	ENSP00000505368.1:n.*3869G>C
ENST00000679532.1:c.734G>C
ENST00000680018.1:c.405G>C	ENSP00000505347.1:n.405G>C
ENST00000680422.1:c.605G>C
ENST00000680425.1:c.183-914G>C	ENSP00000506459.1:n.183-914G>C
ENST00000680453.1:c.473-914G>C
ENST00000680790.1:c.4705G>C	ENSP00000505335.1:p.Glu1569Gln
ENST00000681136.1:n.944G>C
ENST00000681696.1:c.643G>C	ENSP00000505871.1:p.Glu215Gln
ENST00000298910.11:c.4960G>C	ENSP00000298910.7:p.Glu1654Gln
ENST00000430804.5:c.2256G>C
ENST00000479187.5:n.1641G>C
NM_198578.3:c.4960G>C	NP_940980.3:p.Glu1654Gln
XM_005268629.2:c.4960G>C	XP_005268686.1:p.Glu1654Gln
XM_011537877.1:c.4960G>C	XP_011536179.1:p.Glu1654Gln
XM_011537878.1:c.4960G>C	XP_011536180.1:p.Glu1654Gln
XM_011537879.1:c.3757G>C	XP_011536181.1:p.Glu1253Gln
XM_011537881.1:c.4828-914G>C	XP_011536183.1:n.4828-914G>C
XM_005268629.4:c.4960G>C	XP_005268686.1:p.Glu1654Gln
XM_011537877.3:c.4960G>C	XP_011536179.1:p.Glu1654Gln
XM_011537881.3:c.4828-914G>C	XP_011536183.1:n.4828-914G>C
XM_017018787.1:c.1876G>C	XP_016874276.1:p.Glu626Gln
XM_017018788.2:c.1222G>C	XP_016874277.1:p.Glu408Gln
XM_024448833.1:c.3757G>C	XP_024304601.1:p.Glu1253Gln
XR_001748574.2:n.5328G>C
NM_198578.4:c.4960G>C MANE Select	NP_940980.4:p.Glu1654Gln