Canonical Allele Identifier: CA6513848

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 2447242
• ClinVar RCV Id: RCV003165144
• dbSNP Id: rs766130825
• ExAC: 12:40692095 A / T
• gnomAD v2: 12-40692095-A-T
• gnomAD v3: 12-40298293-A-T
• gnomAD v4: 12-40298293-A-T
• MyVariant Identifiers: chr12:g.40692095A>T (hg19) ; chr12:g.40298293A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40298293A>T , CM000674.2:g.40298293A>T	GRCh38
NC_000012.11:g.40692095A>T , CM000674.1:g.40692095A>T	GRCh37
NC_000012.10:g.38978362A>T	NCBI36
NG_011709.1:g.78283A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000298910.12:c.3147A>T MANE Select	ENSP00000298910.7:p.Ser1049=
ENST00000679360.1:c.*2056A>T	ENSP00000505368.1:n.*2056A>T
ENST00000680790.1:c.2892A>T	ENSP00000505335.1:p.Ser964=
ENST00000298910.11:c.3147A>T	ENSP00000298910.7:p.Ser1049=
ENST00000343742.6:c.3147A>T	ENSP00000341930.2:p.Ser1049=
ENST00000430804.5:c.191A>T
NM_198578.3:c.3147A>T	NP_940980.3:p.Ser1049=
XM_005268629.2:c.3147A>T	XP_005268686.1:p.Ser1049=
XM_011537877.1:c.3147A>T	XP_011536179.1:p.Ser1049=
XM_011537878.1:c.3147A>T	XP_011536180.1:p.Ser1049=
XM_011537879.1:c.1944A>T	XP_011536181.1:p.Ser648=
XM_011537880.1:c.3147A>T	XP_011536182.1:p.Ser1049=
XM_011537881.1:c.3147A>T	XP_011536183.1:p.Ser1049=
XM_011537882.1:c.3147A>T	XP_011536184.1:p.Ser1049=
XM_005268629.4:c.3147A>T	XP_005268686.1:p.Ser1049=
XM_011537877.3:c.3147A>T	XP_011536179.1:p.Ser1049=
XM_011537881.3:c.3147A>T	XP_011536183.1:p.Ser1049=
XM_011537882.3:c.3147A>T	XP_011536184.1:p.Ser1049=
XM_017018786.2:c.3147A>T	XP_016874275.1:p.Ser1049=
XM_017018787.1:c.63A>T	XP_016874276.1:p.Ser21=
XM_017018789.2:c.3147A>T	XP_016874278.1:p.Ser1049=
XM_024448833.1:c.1944A>T	XP_024304601.1:p.Ser648=
XR_001748574.2:n.3389A>T
NM_198578.4:c.3147A>T MANE Select	NP_940980.4:p.Ser1049=