Canonical Allele Identifier: CA6514299

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 308635
• ClinVar RCV Id: RCV000365298
• dbSNP Id: rs199843206
• ExAC: 12:40713781 A / T
• gnomAD v2: 12-40713781-A-T
• gnomAD v3: 12-40319979-A-T
• gnomAD v4: 12-40319979-A-T
• MyVariant Identifiers: chr12:g.40713781A>T (hg19) ; chr12:g.40319979A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40319979A>T , CM000674.2:g.40319979A>T	GRCh38
NC_000012.11:g.40713781A>T , CM000674.1:g.40713781A>T	GRCh37
NC_000012.10:g.39000048A>T	NCBI36
NG_011709.1:g.99969A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000298910.12:c.4828-9A>T MANE Select	ENSP00000298910.7:n.4828-9A>T
ENST00000679360.1:c.*3737-9A>T	ENSP00000505368.1:n.*3737-9A>T
ENST00000679532.1:c.602-9A>T
ENST00000680018.1:c.273-9A>T	ENSP00000505347.1:n.273-9A>T
ENST00000680422.1:c.473-9A>T
ENST00000680425.1:c.183-1055A>T	ENSP00000506459.1:n.183-1055A>T
ENST00000680453.1:c.473-1055A>T
ENST00000680790.1:c.4573-9A>T	ENSP00000505335.1:n.4573-9A>T
ENST00000681136.1:n.812-9A>T
ENST00000681696.1:c.511-9A>T	ENSP00000505871.1:n.511-9A>T
ENST00000298910.11:c.4828-9A>T	ENSP00000298910.7:n.4828-9A>T
ENST00000430804.5:c.2124-9A>T
ENST00000479187.5:n.1509-9A>T
ENST00000481256.1:n.487-9A>T
NM_198578.3:c.4828-9A>T	NP_940980.3:n.4828-9A>T
XM_005268629.2:c.4828-9A>T	XP_005268686.1:n.4828-9A>T
XM_011537877.1:c.4828-9A>T	XP_011536179.1:n.4828-9A>T
XM_011537878.1:c.4828-9A>T	XP_011536180.1:n.4828-9A>T
XM_011537879.1:c.3625-9A>T	XP_011536181.1:n.3625-9A>T
XM_011537881.1:c.4828-1055A>T	XP_011536183.1:n.4828-1055A>T
XM_005268629.4:c.4828-9A>T	XP_005268686.1:n.4828-9A>T
XM_011537877.3:c.4828-9A>T	XP_011536179.1:n.4828-9A>T
XM_011537881.3:c.4828-1055A>T	XP_011536183.1:n.4828-1055A>T
XM_017018787.1:c.1744-9A>T	XP_016874276.1:n.1744-9A>T
XM_017018788.2:c.1090-9A>T	XP_016874277.1:n.1090-9A>T
XM_024448833.1:c.3625-9A>T	XP_024304601.1:n.3625-9A>T
XR_001748574.2:n.5196-9A>T
NM_198578.4:c.4828-9A>T MANE Select	NP_940980.4:n.4828-9A>T