Canonical Allele Identifier: CA6514300

Gene: LRRK2

Linked Data

• dbSNP Id: rs149927951
• ExAC: 12:40713796 A / G
• gnomAD v2: 12-40713796-A-G
• gnomAD v3: 12-40319994-A-G
• gnomAD v4: 12-40319994-A-G
• MyVariant Identifiers: chr12:g.40713796A>G (hg19) ; chr12:g.40319994A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40319994A>G , CM000674.2:g.40319994A>G	GRCh38
NC_000012.11:g.40713796A>G , CM000674.1:g.40713796A>G	GRCh37
NC_000012.10:g.39000063A>G	NCBI36
NG_011709.1:g.99984A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000298910.12:c.4834A>G MANE Select	ENSP00000298910.7:p.Thr1612Ala
ENST00000679360.1:c.*3743A>G	ENSP00000505368.1:n.*3743A>G
ENST00000679532.1:c.608A>G
ENST00000680018.1:c.279A>G	ENSP00000505347.1:n.279A>G
ENST00000680422.1:c.479A>G
ENST00000680425.1:c.183-1040A>G	ENSP00000506459.1:n.183-1040A>G
ENST00000680453.1:c.473-1040A>G
ENST00000680790.1:c.4579A>G	ENSP00000505335.1:p.Thr1527Ala
ENST00000681136.1:n.818A>G
ENST00000681696.1:c.517A>G	ENSP00000505871.1:p.Thr173Ala
ENST00000298910.11:c.4834A>G	ENSP00000298910.7:p.Thr1612Ala
ENST00000430804.5:c.2130A>G
ENST00000479187.5:n.1515A>G
ENST00000481256.1:n.493A>G
NM_198578.3:c.4834A>G	NP_940980.3:p.Thr1612Ala
XM_005268629.2:c.4834A>G	XP_005268686.1:p.Thr1612Ala
XM_011537877.1:c.4834A>G	XP_011536179.1:p.Thr1612Ala
XM_011537878.1:c.4834A>G	XP_011536180.1:p.Thr1612Ala
XM_011537879.1:c.3631A>G	XP_011536181.1:p.Thr1211Ala
XM_011537881.1:c.4828-1040A>G	XP_011536183.1:n.4828-1040A>G
XM_005268629.4:c.4834A>G	XP_005268686.1:p.Thr1612Ala
XM_011537877.3:c.4834A>G	XP_011536179.1:p.Thr1612Ala
XM_011537881.3:c.4828-1040A>G	XP_011536183.1:n.4828-1040A>G
XM_017018787.1:c.1750A>G	XP_016874276.1:p.Thr584Ala
XM_017018788.2:c.1096A>G	XP_016874277.1:p.Thr366Ala
XM_024448833.1:c.3631A>G	XP_024304601.1:p.Thr1211Ala
XR_001748574.2:n.5202A>G
NM_198578.4:c.4834A>G MANE Select	NP_940980.4:p.Thr1612Ala