Canonical Allele Identifier: CA384415769

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 3229611
• ClinVar RCV Id: RCV004525187
• MyVariant Identifiers: chr12:g.40692991C>T (hg19) ; chr12:g.40299189C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40299189C>T , CM000674.2:g.40299189C>T	GRCh38
NC_000012.11:g.40692991C>T , CM000674.1:g.40692991C>T	GRCh37
NC_000012.10:g.38979258C>T	NCBI36
NG_011709.1:g.79179C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.3428C>T MANE Select	ENSP00000298910.7:p.Ser1143Phe
ENST00000679360.1:c.*2337C>T	ENSP00000505368.1:n.*2337C>T
ENST00000680790.1:c.3173C>T	ENSP00000505335.1:p.Ser1058Phe
ENST00000298910.11:c.3428C>T	ENSP00000298910.7:p.Ser1143Phe
ENST00000343742.6:c.3428C>T	ENSP00000341930.2:p.Ser1143Phe
ENST00000430804.5:c.472C>T
ENST00000479187.5:n.109C>T
NM_198578.3:c.3428C>T	NP_940980.3:p.Ser1143Phe
XM_005268629.2:c.3428C>T	XP_005268686.1:p.Ser1143Phe
XM_011537877.1:c.3428C>T	XP_011536179.1:p.Ser1143Phe
XM_011537878.1:c.3428C>T	XP_011536180.1:p.Ser1143Phe
XM_011537879.1:c.2225C>T	XP_011536181.1:p.Ser742Phe
XM_011537880.1:c.3428C>T	XP_011536182.1:p.Ser1143Phe
XM_011537881.1:c.3428C>T	XP_011536183.1:p.Ser1143Phe
XM_011537882.1:c.3428C>T	XP_011536184.1:p.Ser1143Phe
XM_005268629.4:c.3428C>T	XP_005268686.1:p.Ser1143Phe
XM_011537877.3:c.3428C>T	XP_011536179.1:p.Ser1143Phe
XM_011537881.3:c.3428C>T	XP_011536183.1:p.Ser1143Phe
XM_011537882.3:c.3428C>T	XP_011536184.1:p.Ser1143Phe
XM_017018786.2:c.3428C>T	XP_016874275.1:p.Ser1143Phe
XM_017018787.1:c.344C>T	XP_016874276.1:p.Ser115Phe
XM_017018789.2:c.3428C>T	XP_016874278.1:p.Ser1143Phe
XM_024448833.1:c.2225C>T	XP_024304601.1:p.Ser742Phe
XR_001748574.2:n.3670C>T
NM_198578.4:c.3428C>T MANE Select	NP_940980.4:p.Ser1143Phe