Canonical Allele Identifier: CA384413499

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 3229774
• ClinVar RCV Id: RCV004517988
• gnomAD v4: 12-40363512-C-T
• MyVariant Identifiers: chr12:g.40757314C>T (hg19) ; chr12:g.40363512C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40363512C>T , CM000674.2:g.40363512C>T	GRCh38
NC_000012.11:g.40757314C>T , CM000674.1:g.40757314C>T	GRCh37
NC_000012.10:g.39043581C>T	NCBI36
NG_011709.1:g.143502C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.7139C>T MANE Select	ENSP00000298910.7:p.Thr2380Ile
ENST00000636518.1:c.936C>T
ENST00000679360.1:c.*6048C>T	ENSP00000505368.1:n.*6048C>T
ENST00000679532.1:c.2913C>T
ENST00000679683.1:c.929C>T
ENST00000680018.1:c.2584C>T	ENSP00000505347.1:n.2584C>T
ENST00000680422.1:c.4226C>T
ENST00000680425.1:c.2306C>T	ENSP00000506459.1:n.2306C>T
ENST00000680453.1:c.2596C>T
ENST00000680790.1:c.6884C>T	ENSP00000505335.1:p.Thr2295Ile
ENST00000681136.1:n.3123C>T
ENST00000681696.1:c.2822C>T	ENSP00000505871.1:p.Thr941Ile
ENST00000681773.1:n.346C>T
ENST00000298910.11:c.7139C>T	ENSP00000298910.7:p.Thr2380Ile
ENST00000430804.5:c.4435C>T
ENST00000479187.5:n.3820C>T
NM_198578.3:c.7139C>T	NP_940980.3:p.Thr2380Ile
XM_005268629.2:c.7139C>T	XP_005268686.1:p.Thr2380Ile
XM_011537877.1:c.7139C>T	XP_011536179.1:p.Thr2380Ile
XM_011537879.1:c.5936C>T	XP_011536181.1:p.Thr1979Ile
XR_944868.1:n.485-8685G>A
XM_005268629.4:c.7139C>T	XP_005268686.1:p.Thr2380Ile
XM_011537877.3:c.7139C>T	XP_011536179.1:p.Thr2380Ile
XM_017018787.1:c.4055C>T	XP_016874276.1:p.Thr1352Ile
XM_017018788.2:c.3401C>T	XP_016874277.1:p.Thr1134Ile
XM_024448833.1:c.5936C>T	XP_024304601.1:p.Thr1979Ile
XR_944868.2:n.485-8685G>A
NM_198578.4:c.7139C>T MANE Select	NP_940980.4:p.Thr2380Ile