Canonical Allele Identifier: CA384404145

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 1751514
• ClinVar RCV Id: RCV002360062
• MyVariant Identifiers: chr12:g.40734239C>T (hg19) ; chr12:g.40340437C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40340437C>T , CM000674.2:g.40340437C>T	GRCh38
NC_000012.11:g.40734239C>T , CM000674.1:g.40734239C>T	GRCh37
NC_000012.10:g.39020506C>T	NCBI36
NG_011709.1:g.120427C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.6092C>T MANE Select	ENSP00000298910.7:p.Thr2031Ile
ENST00000679360.1:c.*5001C>T	ENSP00000505368.1:n.*5001C>T
ENST00000679532.1:c.1866C>T
ENST00000680018.1:c.1537C>T	ENSP00000505347.1:n.1537C>T
ENST00000680422.1:c.1737C>T
ENST00000680425.1:c.1259C>T	ENSP00000506459.1:n.1259C>T
ENST00000680453.1:c.1549C>T
ENST00000680790.1:c.5837C>T	ENSP00000505335.1:p.Thr1946Ile
ENST00000681136.1:n.2076C>T
ENST00000681696.1:c.1775C>T	ENSP00000505871.1:p.Thr592Ile
ENST00000298910.11:c.6092C>T	ENSP00000298910.7:p.Thr2031Ile
ENST00000430804.5:c.3388C>T
ENST00000479187.5:n.2773C>T
NM_198578.3:c.6092C>T	NP_940980.3:p.Thr2031Ile
XM_005268629.2:c.6092C>T	XP_005268686.1:p.Thr2031Ile
XM_011537877.1:c.6092C>T	XP_011536179.1:p.Thr2031Ile
XM_011537878.1:c.6092C>T	XP_011536180.1:p.Thr2031Ile
XM_011537879.1:c.4889C>T	XP_011536181.1:p.Thr1630Ile
XM_005268629.4:c.6092C>T	XP_005268686.1:p.Thr2031Ile
XM_011537877.3:c.6092C>T	XP_011536179.1:p.Thr2031Ile
XM_017018787.1:c.3008C>T	XP_016874276.1:p.Thr1003Ile
XM_017018788.2:c.2354C>T	XP_016874277.1:p.Thr785Ile
XM_024448833.1:c.4889C>T	XP_024304601.1:p.Thr1630Ile
NM_198578.4:c.6092C>T MANE Select	NP_940980.4:p.Thr2031Ile