Canonical Allele Identifier: CA384413502

Gene: LRRK2

Linked Data

• MyVariant Identifiers: chr12:g.40757316G>C (hg19) ; chr12:g.40363514G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40363514G>C , CM000674.2:g.40363514G>C	GRCh38
NC_000012.11:g.40757316G>C , CM000674.1:g.40757316G>C	GRCh37
NC_000012.10:g.39043583G>C	NCBI36
NG_011709.1:g.143504G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.7141G>C MANE Select	ENSP00000298910.7:p.Glu2381Gln
ENST00000636518.1:c.938G>C
ENST00000679360.1:c.*6050G>C	ENSP00000505368.1:n.*6050G>C
ENST00000679532.1:c.2915G>C
ENST00000679683.1:c.931G>C
ENST00000680018.1:c.2586G>C	ENSP00000505347.1:n.2586G>C
ENST00000680422.1:c.4228G>C
ENST00000680425.1:c.2308G>C	ENSP00000506459.1:n.2308G>C
ENST00000680453.1:c.2598G>C
ENST00000680790.1:c.6886G>C	ENSP00000505335.1:p.Glu2296Gln
ENST00000681136.1:n.3125G>C
ENST00000681696.1:c.2824G>C	ENSP00000505871.1:p.Glu942Gln
ENST00000681773.1:n.348G>C
ENST00000298910.11:c.7141G>C	ENSP00000298910.7:p.Glu2381Gln
ENST00000430804.5:c.4437G>C
ENST00000479187.5:n.3822G>C
NM_198578.3:c.7141G>C	NP_940980.3:p.Glu2381Gln
XM_005268629.2:c.7141G>C	XP_005268686.1:p.Glu2381Gln
XM_011537877.1:c.7141G>C	XP_011536179.1:p.Glu2381Gln
XM_011537879.1:c.5938G>C	XP_011536181.1:p.Glu1980Gln
XR_944868.1:n.485-8687C>G
XM_005268629.4:c.7141G>C	XP_005268686.1:p.Glu2381Gln
XM_011537877.3:c.7141G>C	XP_011536179.1:p.Glu2381Gln
XM_017018787.1:c.4057G>C	XP_016874276.1:p.Glu1353Gln
XM_017018788.2:c.3403G>C	XP_016874277.1:p.Glu1135Gln
XM_024448833.1:c.5938G>C	XP_024304601.1:p.Glu1980Gln
XR_944868.2:n.485-8687C>G
NM_198578.4:c.7141G>C MANE Select	NP_940980.4:p.Glu2381Gln