Canonical Allele Identifier: CA384419481

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 1743726
• ClinVar RCV Id: RCV002330811
• MyVariant Identifiers: chr12:g.40713833G>T (hg19) ; chr12:g.40320031G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40320031G>T , CM000674.2:g.40320031G>T	GRCh38
NC_000012.11:g.40713833G>T , CM000674.1:g.40713833G>T	GRCh37
NC_000012.10:g.39000100G>T	NCBI36
NG_011709.1:g.100021G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.4871G>T MANE Select	ENSP00000298910.7:p.Gly1624Val
ENST00000679360.1:c.*3780G>T	ENSP00000505368.1:n.*3780G>T
ENST00000679532.1:c.645G>T
ENST00000680018.1:c.316G>T	ENSP00000505347.1:n.316G>T
ENST00000680422.1:c.516G>T
ENST00000680425.1:c.183-1003G>T	ENSP00000506459.1:n.183-1003G>T
ENST00000680453.1:c.473-1003G>T
ENST00000680790.1:c.4616G>T	ENSP00000505335.1:p.Gly1539Val
ENST00000681136.1:n.855G>T
ENST00000681696.1:c.554G>T	ENSP00000505871.1:p.Gly185Val
ENST00000298910.11:c.4871G>T	ENSP00000298910.7:p.Gly1624Val
ENST00000430804.5:c.2167G>T
ENST00000479187.5:n.1552G>T
ENST00000481256.1:n.530G>T
NM_198578.3:c.4871G>T	NP_940980.3:p.Gly1624Val
XM_005268629.2:c.4871G>T	XP_005268686.1:p.Gly1624Val
XM_011537877.1:c.4871G>T	XP_011536179.1:p.Gly1624Val
XM_011537878.1:c.4871G>T	XP_011536180.1:p.Gly1624Val
XM_011537879.1:c.3668G>T	XP_011536181.1:p.Gly1223Val
XM_011537881.1:c.4828-1003G>T	XP_011536183.1:n.4828-1003G>T
XM_005268629.4:c.4871G>T	XP_005268686.1:p.Gly1624Val
XM_011537877.3:c.4871G>T	XP_011536179.1:p.Gly1624Val
XM_011537881.3:c.4828-1003G>T	XP_011536183.1:n.4828-1003G>T
XM_017018787.1:c.1787G>T	XP_016874276.1:p.Gly596Val
XM_017018788.2:c.1133G>T	XP_016874277.1:p.Gly378Val
XM_024448833.1:c.3668G>T	XP_024304601.1:p.Gly1223Val
XR_001748574.2:n.5239G>T
NM_198578.4:c.4871G>T MANE Select	NP_940980.4:p.Gly1624Val