Canonical Allele Identifier: CA384403984

Gene: LRRK2

Linked Data

• dbSNP Id: rs1946004508
• gnomAD v4: 12-40340401-G-C
• MyVariant Identifiers: chr12:g.40734203G>C (hg19) ; chr12:g.40340401G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40340401G>C , CM000674.2:g.40340401G>C	GRCh38
NC_000012.11:g.40734203G>C , CM000674.1:g.40734203G>C	GRCh37
NC_000012.10:g.39020470G>C	NCBI36
NG_011709.1:g.120391G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.6056G>C MANE Select	ENSP00000298910.7:p.Gly2019Ala
ENST00000679360.1:c.*4965G>C	ENSP00000505368.1:n.*4965G>C
ENST00000679532.1:c.1830G>C
ENST00000680018.1:c.1501G>C	ENSP00000505347.1:n.1501G>C
ENST00000680422.1:c.1701G>C
ENST00000680425.1:c.1223G>C	ENSP00000506459.1:n.1223G>C
ENST00000680453.1:c.1513G>C
ENST00000680790.1:c.5801G>C	ENSP00000505335.1:p.Gly1934Ala
ENST00000681136.1:n.2040G>C
ENST00000681696.1:c.1739G>C	ENSP00000505871.1:p.Gly580Ala
ENST00000298910.11:c.6056G>C	ENSP00000298910.7:p.Gly2019Ala
ENST00000430804.5:c.3352G>C
ENST00000479187.5:n.2737G>C
NM_198578.3:c.6056G>C	NP_940980.3:p.Gly2019Ala
XM_005268629.2:c.6056G>C	XP_005268686.1:p.Gly2019Ala
XM_011537877.1:c.6056G>C	XP_011536179.1:p.Gly2019Ala
XM_011537878.1:c.6056G>C	XP_011536180.1:p.Gly2019Ala
XM_011537879.1:c.4853G>C	XP_011536181.1:p.Gly1618Ala
XM_005268629.4:c.6056G>C	XP_005268686.1:p.Gly2019Ala
XM_011537877.3:c.6056G>C	XP_011536179.1:p.Gly2019Ala
XM_017018787.1:c.2972G>C	XP_016874276.1:p.Gly991Ala
XM_017018788.2:c.2318G>C	XP_016874277.1:p.Gly773Ala
XM_024448833.1:c.4853G>C	XP_024304601.1:p.Gly1618Ala
NM_198578.4:c.6056G>C MANE Select	NP_940980.4:p.Gly2019Ala