Canonical Allele Identifier: CA384421164

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 2624886
• ClinVar RCV Id: RCV003387107
• dbSNP Id: rs1945453188
• gnomAD v3: 12-40323261-A-C
• gnomAD v4: 12-40323261-A-C
• MyVariant Identifiers: chr12:g.40717063A>C (hg19) ; chr12:g.40323261A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40323261A>C , CM000674.2:g.40323261A>C	GRCh38
NC_000012.11:g.40717063A>C , CM000674.1:g.40717063A>C	GRCh37
NC_000012.10:g.39003330A>C	NCBI36
NG_011709.1:g.103251A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000298910.12:c.5611A>C MANE Select	ENSP00000298910.7:p.Asn1871His
ENST00000679360.1:c.*4520A>C	ENSP00000505368.1:n.*4520A>C
ENST00000679532.1:c.1385A>C
ENST00000680018.1:c.1056A>C	ENSP00000505347.1:n.1056A>C
ENST00000680422.1:c.1256A>C
ENST00000680425.1:c.778A>C	ENSP00000506459.1:n.778A>C
ENST00000680453.1:c.1068A>C
ENST00000680790.1:c.5356A>C	ENSP00000505335.1:p.Asn1786His
ENST00000681136.1:n.1595A>C
ENST00000681696.1:c.1294A>C	ENSP00000505871.1:p.Asn432His
ENST00000298910.11:c.5611A>C	ENSP00000298910.7:p.Asn1871His
ENST00000430804.5:c.2907A>C
ENST00000479187.5:n.2292A>C
NM_198578.3:c.5611A>C	NP_940980.3:p.Asn1871His
XM_005268629.2:c.5611A>C	XP_005268686.1:p.Asn1871His
XM_011537877.1:c.5611A>C	XP_011536179.1:p.Asn1871His
XM_011537878.1:c.5611A>C	XP_011536180.1:p.Asn1871His
XM_011537879.1:c.4408A>C	XP_011536181.1:p.Asn1470His
XM_005268629.4:c.5611A>C	XP_005268686.1:p.Asn1871His
XM_011537877.3:c.5611A>C	XP_011536179.1:p.Asn1871His
XM_017018787.1:c.2527A>C	XP_016874276.1:p.Asn843His
XM_017018788.2:c.1873A>C	XP_016874277.1:p.Asn625His
XM_024448833.1:c.4408A>C	XP_024304601.1:p.Asn1470His
NM_198578.4:c.5611A>C MANE Select	NP_940980.4:p.Asn1871His