Canonical Allele Identifier: CA6514858

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 1757460
• ClinVar RCV Id: RCV002378379
• dbSNP Id: rs376230626
• ExAC: 12:40757344 T / C
• gnomAD v2: 12-40757344-T-C
• gnomAD v3: 12-40363542-T-C
• gnomAD v4: 12-40363542-T-C
• MyVariant Identifiers: chr12:g.40757344T>C (hg19) ; chr12:g.40363542T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40363542T>C , CM000674.2:g.40363542T>C	GRCh38
NC_000012.11:g.40757344T>C , CM000674.1:g.40757344T>C	GRCh37
NC_000012.10:g.39043611T>C	NCBI36
NG_011709.1:g.143532T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000298910.12:c.7169T>C MANE Select	ENSP00000298910.7:p.Val2390Ala
ENST00000636518.1:c.966T>C
ENST00000679360.1:c.*6078T>C	ENSP00000505368.1:n.*6078T>C
ENST00000679532.1:c.2943T>C
ENST00000679683.1:c.959T>C
ENST00000680018.1:c.2614T>C	ENSP00000505347.1:n.2614T>C
ENST00000680422.1:c.4256T>C
ENST00000680425.1:c.2336T>C	ENSP00000506459.1:n.2336T>C
ENST00000680453.1:c.2626T>C
ENST00000680790.1:c.6914T>C	ENSP00000505335.1:p.Val2305Ala
ENST00000681136.1:n.3153T>C
ENST00000681696.1:c.2852T>C	ENSP00000505871.1:p.Val951Ala
ENST00000681773.1:n.376T>C
ENST00000298910.11:c.7169T>C	ENSP00000298910.7:p.Val2390Ala
ENST00000430804.5:c.4465T>C
ENST00000479187.5:n.3850T>C
NM_198578.3:c.7169T>C	NP_940980.3:p.Val2390Ala
XM_005268629.2:c.7169T>C	XP_005268686.1:p.Val2390Ala
XM_011537877.1:c.7169T>C	XP_011536179.1:p.Val2390Ala
XM_011537879.1:c.5966T>C	XP_011536181.1:p.Val1989Ala
XR_944868.1:n.485-8715A>G
XM_005268629.4:c.7169T>C	XP_005268686.1:p.Val2390Ala
XM_011537877.3:c.7169T>C	XP_011536179.1:p.Val2390Ala
XM_017018787.1:c.4085T>C	XP_016874276.1:p.Val1362Ala
XM_017018788.2:c.3431T>C	XP_016874277.1:p.Val1144Ala
XM_024448833.1:c.5966T>C	XP_024304601.1:p.Val1989Ala
XR_944868.2:n.485-8715A>G
NM_198578.4:c.7169T>C MANE Select	NP_940980.4:p.Val2390Ala