Canonical Allele Identifier: CA384415037

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 1729847
• ClinVar RCV Id: RCV002445825
• MyVariant Identifiers: chr12:g.40692238T>C (hg19) ; chr12:g.40298436T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40298436T>C , CM000674.2:g.40298436T>C	GRCh38
NC_000012.11:g.40692238T>C , CM000674.1:g.40692238T>C	GRCh37
NC_000012.10:g.38978505T>C	NCBI36
NG_011709.1:g.78426T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000298910.12:c.3290T>C MANE Select	ENSP00000298910.7:p.Phe1097Ser
ENST00000679360.1:c.*2199T>C	ENSP00000505368.1:n.*2199T>C
ENST00000680790.1:c.3035T>C	ENSP00000505335.1:p.Phe1012Ser
ENST00000298910.11:c.3290T>C	ENSP00000298910.7:p.Phe1097Ser
ENST00000343742.6:c.3290T>C	ENSP00000341930.2:p.Phe1097Ser
ENST00000430804.5:c.334T>C
NM_198578.3:c.3290T>C	NP_940980.3:p.Phe1097Ser
XM_005268629.2:c.3290T>C	XP_005268686.1:p.Phe1097Ser
XM_011537877.1:c.3290T>C	XP_011536179.1:p.Phe1097Ser
XM_011537878.1:c.3290T>C	XP_011536180.1:p.Phe1097Ser
XM_011537879.1:c.2087T>C	XP_011536181.1:p.Phe696Ser
XM_011537880.1:c.3290T>C	XP_011536182.1:p.Phe1097Ser
XM_011537881.1:c.3290T>C	XP_011536183.1:p.Phe1097Ser
XM_011537882.1:c.3290T>C	XP_011536184.1:p.Phe1097Ser
XM_005268629.4:c.3290T>C	XP_005268686.1:p.Phe1097Ser
XM_011537877.3:c.3290T>C	XP_011536179.1:p.Phe1097Ser
XM_011537881.3:c.3290T>C	XP_011536183.1:p.Phe1097Ser
XM_011537882.3:c.3290T>C	XP_011536184.1:p.Phe1097Ser
XM_017018786.2:c.3290T>C	XP_016874275.1:p.Phe1097Ser
XM_017018787.1:c.206T>C	XP_016874276.1:p.Phe69Ser
XM_017018789.2:c.3290T>C	XP_016874278.1:p.Phe1097Ser
XM_024448833.1:c.2087T>C	XP_024304601.1:p.Phe696Ser
XR_001748574.2:n.3532T>C
NM_198578.4:c.3290T>C MANE Select	NP_940980.4:p.Phe1097Ser