Canonical Allele Identifier: CA479247239

Gene: LRRK2

Linked Data

• gnomAD v4: 12-40363435-C-A
• MyVariant Identifiers: chr12:g.40757237C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40363435C>A , CM000674.2:g.40363435C>A	GRCh38
NC_000012.11:g.40757237C>A , CM000674.1:g.40757237C>A	GRCh37
NC_000012.10:g.39043504C>A	NCBI36
NG_011709.1:g.143425C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000298910.12:c.7062C>A MANE Select	ENSP00000298910.7:p.Ile2354=
ENST00000636518.1:c.859C>A
ENST00000679360.1:c.*5971C>A	ENSP00000505368.1:n.*5971C>A
ENST00000679532.1:c.2836C>A
ENST00000679683.1:c.852C>A
ENST00000680018.1:c.2507C>A	ENSP00000505347.1:n.2507C>A
ENST00000680422.1:c.4149C>A
ENST00000680425.1:c.2229C>A	ENSP00000506459.1:n.2229C>A
ENST00000680453.1:c.2519C>A
ENST00000680790.1:c.6807C>A	ENSP00000505335.1:p.Ile2269=
ENST00000681136.1:n.3046C>A
ENST00000681696.1:c.2745C>A	ENSP00000505871.1:p.Ile915=
ENST00000681773.1:n.269C>A
ENST00000298910.11:c.7062C>A	ENSP00000298910.7:p.Ile2354=
ENST00000430804.5:c.4358C>A
ENST00000479187.5:n.3743C>A
NM_198578.3:c.7062C>A	NP_940980.3:p.Ile2354=
XM_005268629.2:c.7062C>A	XP_005268686.1:p.Ile2354=
XM_011537877.1:c.7062C>A	XP_011536179.1:p.Ile2354=
XM_011537879.1:c.5859C>A	XP_011536181.1:p.Ile1953=
XR_944868.1:n.485-8608G>T
XM_005268629.4:c.7062C>A	XP_005268686.1:p.Ile2354=
XM_011537877.3:c.7062C>A	XP_011536179.1:p.Ile2354=
XM_017018787.1:c.3978C>A	XP_016874276.1:p.Ile1326=
XM_017018788.2:c.3324C>A	XP_016874277.1:p.Ile1108=
XM_024448833.1:c.5859C>A	XP_024304601.1:p.Ile1953=
XR_944868.2:n.485-8608G>T
NM_198578.4:c.7062C>A MANE Select	NP_940980.4:p.Ile2354=