Canonical Allele Identifier: CA479241453

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 1753786
• ClinVar RCV Id: RCV002356226
• dbSNP Id: rs1212004894
• gnomAD v2: 12-40745445-C-T
• gnomAD v3: 12-40351643-C-T
• gnomAD v4: 12-40351643-C-T
• MyVariant Identifiers: chr12:g.40745445C>T (hg19) ; chr12:g.40351643C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40351643C>T , CM000674.2:g.40351643C>T	GRCh38
NC_000012.11:g.40745445C>T , CM000674.1:g.40745445C>T	GRCh37
NC_000012.10:g.39031712C>T	NCBI36
NG_011709.1:g.131633C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.6486C>T MANE Select	ENSP00000298910.7:p.Ser2162=
ENST00000636518.1:c.283C>T
ENST00000679360.1:c.*5395C>T	ENSP00000505368.1:n.*5395C>T
ENST00000679532.1:c.2260C>T
ENST00000679683.1:c.276C>T
ENST00000680018.1:c.1931C>T	ENSP00000505347.1:n.1931C>T
ENST00000680422.1:c.2131C>T
ENST00000680425.1:c.1653C>T	ENSP00000506459.1:n.1653C>T
ENST00000680453.1:c.1943C>T
ENST00000680790.1:c.6231C>T	ENSP00000505335.1:p.Ser2077=
ENST00000681136.1:n.2470C>T
ENST00000681696.1:c.2169C>T	ENSP00000505871.1:p.Ser723=
ENST00000298910.11:c.6486C>T	ENSP00000298910.7:p.Ser2162=
ENST00000430804.5:c.3782C>T
ENST00000479187.5:n.3167C>T
NM_198578.3:c.6486C>T	NP_940980.3:p.Ser2162=
XM_005268629.2:c.6486C>T	XP_005268686.1:p.Ser2162=
XM_011537877.1:c.6486C>T	XP_011536179.1:p.Ser2162=
XM_011537878.1:c.6486C>T	XP_011536180.1:p.Ser2162=
XM_011537879.1:c.5283C>T	XP_011536181.1:p.Ser1761=
XM_005268629.4:c.6486C>T	XP_005268686.1:p.Ser2162=
XM_011537877.3:c.6486C>T	XP_011536179.1:p.Ser2162=
XM_017018787.1:c.3402C>T	XP_016874276.1:p.Ser1134=
XM_017018788.2:c.2748C>T	XP_016874277.1:p.Ser916=
XM_024448833.1:c.5283C>T	XP_024304601.1:p.Ser1761=
NM_198578.4:c.6486C>T MANE Select	NP_940980.4:p.Ser2162=