Canonical Allele Identifier: CA6514846

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 1757010
• ClinVar RCV Id: RCV002365101 ; RCV003098463
• dbSNP Id: rs776691033
• ExAC: 12:40757245 T / C
• gnomAD v2: 12-40757245-T-C
• gnomAD v3: 12-40363443-T-C
• gnomAD v4: 12-40363443-T-C
• MyVariant Identifiers: chr12:g.40757245T>C (hg19) ; chr12:g.40363443T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40363443T>C , CM000674.2:g.40363443T>C	GRCh38
NC_000012.11:g.40757245T>C , CM000674.1:g.40757245T>C	GRCh37
NC_000012.10:g.39043512T>C	NCBI36
NG_011709.1:g.143433T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000298910.12:c.7070T>C MANE Select	ENSP00000298910.7:p.Val2357Ala
ENST00000636518.1:c.867T>C
ENST00000679360.1:c.*5979T>C	ENSP00000505368.1:n.*5979T>C
ENST00000679532.1:c.2844T>C
ENST00000679683.1:c.860T>C
ENST00000680018.1:c.2515T>C	ENSP00000505347.1:n.2515T>C
ENST00000680422.1:c.4157T>C
ENST00000680425.1:c.2237T>C	ENSP00000506459.1:n.2237T>C
ENST00000680453.1:c.2527T>C
ENST00000680790.1:c.6815T>C	ENSP00000505335.1:p.Val2272Ala
ENST00000681136.1:n.3054T>C
ENST00000681696.1:c.2753T>C	ENSP00000505871.1:p.Val918Ala
ENST00000681773.1:n.277T>C
ENST00000298910.11:c.7070T>C	ENSP00000298910.7:p.Val2357Ala
ENST00000430804.5:c.4366T>C
ENST00000479187.5:n.3751T>C
NM_198578.3:c.7070T>C	NP_940980.3:p.Val2357Ala
XM_005268629.2:c.7070T>C	XP_005268686.1:p.Val2357Ala
XM_011537877.1:c.7070T>C	XP_011536179.1:p.Val2357Ala
XM_011537879.1:c.5867T>C	XP_011536181.1:p.Val1956Ala
XR_944868.1:n.485-8616A>G
XM_005268629.4:c.7070T>C	XP_005268686.1:p.Val2357Ala
XM_011537877.3:c.7070T>C	XP_011536179.1:p.Val2357Ala
XM_017018787.1:c.3986T>C	XP_016874276.1:p.Val1329Ala
XM_017018788.2:c.3332T>C	XP_016874277.1:p.Val1111Ala
XM_024448833.1:c.5867T>C	XP_024304601.1:p.Val1956Ala
XR_944868.2:n.485-8616A>G
NM_198578.4:c.7070T>C MANE Select	NP_940980.4:p.Val2357Ala