Canonical Allele Identifier: CA479247675

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 1757496
• ClinVar RCV Id: RCV002378415
• gnomAD v4: 12-40363552-A-G
• MyVariant Identifiers: chr12:g.40757354A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40363552A>G , CM000674.2:g.40363552A>G	GRCh38
NC_000012.11:g.40757354A>G , CM000674.1:g.40757354A>G	GRCh37
NC_000012.10:g.39043621A>G	NCBI36
NG_011709.1:g.143542A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000298910.12:c.7179A>G MANE Select	ENSP00000298910.7:p.Leu2393=
ENST00000636518.1:c.976A>G
ENST00000679360.1:c.*6088A>G	ENSP00000505368.1:n.*6088A>G
ENST00000679532.1:c.2953A>G
ENST00000679683.1:c.969A>G
ENST00000680018.1:c.2624A>G	ENSP00000505347.1:n.2624A>G
ENST00000680422.1:c.4266A>G
ENST00000680425.1:c.2346A>G	ENSP00000506459.1:n.2346A>G
ENST00000680453.1:c.2636A>G
ENST00000680790.1:c.6924A>G	ENSP00000505335.1:p.Leu2308=
ENST00000681136.1:n.3163A>G
ENST00000681696.1:c.2862A>G	ENSP00000505871.1:p.Leu954=
ENST00000681773.1:n.386A>G
ENST00000298910.11:c.7179A>G	ENSP00000298910.7:p.Leu2393=
ENST00000430804.5:c.4475A>G
ENST00000479187.5:n.3860A>G
NM_198578.3:c.7179A>G	NP_940980.3:p.Leu2393=
XM_005268629.2:c.7179A>G	XP_005268686.1:p.Leu2393=
XM_011537877.1:c.7179A>G	XP_011536179.1:p.Leu2393=
XM_011537879.1:c.5976A>G	XP_011536181.1:p.Leu1992=
XR_944868.1:n.485-8725T>C
XM_005268629.4:c.7179A>G	XP_005268686.1:p.Leu2393=
XM_011537877.3:c.7179A>G	XP_011536179.1:p.Leu2393=
XM_017018787.1:c.4095A>G	XP_016874276.1:p.Leu1365=
XM_017018788.2:c.3441A>G	XP_016874277.1:p.Leu1147=
XM_024448833.1:c.5976A>G	XP_024304601.1:p.Leu1992=
XR_944868.2:n.485-8725T>C
NM_198578.4:c.7179A>G MANE Select	NP_940980.4:p.Leu2393=