Canonical Allele Identifier: CA384415530

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 1730753
• ClinVar RCV Id: RCV002451762
• MyVariant Identifiers: chr12:g.40692936C>G (hg19) ; chr12:g.40299134C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40299134C>G , CM000674.2:g.40299134C>G	GRCh38
NC_000012.11:g.40692936C>G , CM000674.1:g.40692936C>G	GRCh37
NC_000012.10:g.38979203C>G	NCBI36
NG_011709.1:g.79124C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000298910.12:c.3373C>G MANE Select	ENSP00000298910.7:p.Pro1125Ala
ENST00000679360.1:c.*2282C>G	ENSP00000505368.1:n.*2282C>G
ENST00000680790.1:c.3118C>G	ENSP00000505335.1:p.Pro1040Ala
ENST00000298910.11:c.3373C>G	ENSP00000298910.7:p.Pro1125Ala
ENST00000343742.6:c.3373C>G	ENSP00000341930.2:p.Pro1125Ala
ENST00000430804.5:c.417C>G
ENST00000479187.5:n.54C>G
NM_198578.3:c.3373C>G	NP_940980.3:p.Pro1125Ala
XM_005268629.2:c.3373C>G	XP_005268686.1:p.Pro1125Ala
XM_011537877.1:c.3373C>G	XP_011536179.1:p.Pro1125Ala
XM_011537878.1:c.3373C>G	XP_011536180.1:p.Pro1125Ala
XM_011537879.1:c.2170C>G	XP_011536181.1:p.Pro724Ala
XM_011537880.1:c.3373C>G	XP_011536182.1:p.Pro1125Ala
XM_011537881.1:c.3373C>G	XP_011536183.1:p.Pro1125Ala
XM_011537882.1:c.3373C>G	XP_011536184.1:p.Pro1125Ala
XM_005268629.4:c.3373C>G	XP_005268686.1:p.Pro1125Ala
XM_011537877.3:c.3373C>G	XP_011536179.1:p.Pro1125Ala
XM_011537881.3:c.3373C>G	XP_011536183.1:p.Pro1125Ala
XM_011537882.3:c.3373C>G	XP_011536184.1:p.Pro1125Ala
XM_017018786.2:c.3373C>G	XP_016874275.1:p.Pro1125Ala
XM_017018787.1:c.289C>G	XP_016874276.1:p.Pro97Ala
XM_017018789.2:c.3373C>G	XP_016874278.1:p.Pro1125Ala
XM_024448833.1:c.2170C>G	XP_024304601.1:p.Pro724Ala
XR_001748574.2:n.3615C>G
NM_198578.4:c.3373C>G MANE Select	NP_940980.4:p.Pro1125Ala