Canonical Allele Identifier: CA235362464

Gene: LRRK2

Linked Data

• dbSNP Id: rs1050282159
• gnomAD v2: 12-40714829-C-T
• gnomAD v4: 12-40321027-C-T
• MyVariant Identifiers: chr12:g.40714829C>T (hg19) ; chr12:g.40321027C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40321027C>T , CM000674.2:g.40321027C>T	GRCh38
NC_000012.11:g.40714829C>T , CM000674.1:g.40714829C>T	GRCh37
NC_000012.10:g.39001096C>T	NCBI36
NG_011709.1:g.101017C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000298910.12:c.5016-7C>T MANE Select	ENSP00000298910.7:n.5016-7C>T
ENST00000679360.1:c.*3925-7C>T	ENSP00000505368.1:n.*3925-7C>T
ENST00000679532.1:c.790-7C>T
ENST00000680018.1:c.461-7C>T	ENSP00000505347.1:n.461-7C>T
ENST00000680422.1:c.661-7C>T
ENST00000680425.1:c.183-7C>T	ENSP00000506459.1:n.183-7C>T
ENST00000680453.1:c.473-7C>T
ENST00000680790.1:c.4761-7C>T	ENSP00000505335.1:n.4761-7C>T
ENST00000681136.1:n.1000-7C>T
ENST00000681696.1:c.699-7C>T	ENSP00000505871.1:n.699-7C>T
ENST00000298910.11:c.5016-7C>T	ENSP00000298910.7:n.5016-7C>T
ENST00000430804.5:c.2312-7C>T
ENST00000479187.5:n.1697-7C>T
NM_198578.3:c.5016-7C>T	NP_940980.3:n.5016-7C>T
XM_005268629.2:c.5016-7C>T	XP_005268686.1:n.5016-7C>T
XM_011537877.1:c.5016-7C>T	XP_011536179.1:n.5016-7C>T
XM_011537878.1:c.5016-7C>T	XP_011536180.1:n.5016-7C>T
XM_011537879.1:c.3813-7C>T	XP_011536181.1:n.3813-7C>T
XM_011537881.1:c.4828-7C>T	XP_011536183.1:n.4828-7C>T
XM_005268629.4:c.5016-7C>T	XP_005268686.1:n.5016-7C>T
XM_011537877.3:c.5016-7C>T	XP_011536179.1:n.5016-7C>T
XM_011537881.3:c.4828-7C>T	XP_011536183.1:n.4828-7C>T
XM_017018787.1:c.1932-7C>T	XP_016874276.1:n.1932-7C>T
XM_017018788.2:c.1278-7C>T	XP_016874277.1:n.1278-7C>T
XM_024448833.1:c.3813-7C>T	XP_024304601.1:n.3813-7C>T
XR_001748574.2:n.5384-7C>T
NM_198578.4:c.5016-7C>T MANE Select	NP_940980.4:n.5016-7C>T