Canonical Allele Identifier: CA479247104

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 2453058
• ClinVar RCV Id: RCV003182513
• dbSNP Id: rs1262886109
• gnomAD v2: 12-40757204-G-T
• gnomAD v3: 12-40363402-G-T
• gnomAD v4: 12-40363402-G-T
• MyVariant Identifiers: chr12:g.40757204G>T (hg19) ; chr12:g.40363402G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40363402G>T , CM000674.2:g.40363402G>T	GRCh38
NC_000012.11:g.40757204G>T , CM000674.1:g.40757204G>T	GRCh37
NC_000012.10:g.39043471G>T	NCBI36
NG_011709.1:g.143392G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.7029G>T MANE Select	ENSP00000298910.7:p.Leu2343=
ENST00000636518.1:c.826G>T
ENST00000679360.1:c.*5938G>T	ENSP00000505368.1:n.*5938G>T
ENST00000679532.1:c.2803G>T
ENST00000679683.1:c.819G>T
ENST00000680018.1:c.2474G>T	ENSP00000505347.1:n.2474G>T
ENST00000680422.1:c.4116G>T
ENST00000680425.1:c.2196G>T	ENSP00000506459.1:n.2196G>T
ENST00000680453.1:c.2486G>T
ENST00000680790.1:c.6774G>T	ENSP00000505335.1:p.Leu2258=
ENST00000681136.1:n.3013G>T
ENST00000681696.1:c.2712G>T	ENSP00000505871.1:p.Leu904=
ENST00000681773.1:n.236G>T
ENST00000298910.11:c.7029G>T	ENSP00000298910.7:p.Leu2343=
ENST00000430804.5:c.4325G>T
ENST00000479187.5:n.3710G>T
NM_198578.3:c.7029G>T	NP_940980.3:p.Leu2343=
XM_005268629.2:c.7029G>T	XP_005268686.1:p.Leu2343=
XM_011537877.1:c.7029G>T	XP_011536179.1:p.Leu2343=
XM_011537879.1:c.5826G>T	XP_011536181.1:p.Leu1942=
XR_944868.1:n.485-8575C>A
XM_005268629.4:c.7029G>T	XP_005268686.1:p.Leu2343=
XM_011537877.3:c.7029G>T	XP_011536179.1:p.Leu2343=
XM_017018787.1:c.3945G>T	XP_016874276.1:p.Leu1315=
XM_017018788.2:c.3291G>T	XP_016874277.1:p.Leu1097=
XM_024448833.1:c.5826G>T	XP_024304601.1:p.Leu1942=
XR_944868.2:n.485-8575C>A
NM_198578.4:c.7029G>T MANE Select	NP_940980.4:p.Leu2343=