Canonical Allele Identifier: CA479247260

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 1756975
• ClinVar RCV Id: RCV002365066
• MyVariant Identifiers: chr12:g.40757243A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40363441A>T , CM000674.2:g.40363441A>T	GRCh38
NC_000012.11:g.40757243A>T , CM000674.1:g.40757243A>T	GRCh37
NC_000012.10:g.39043510A>T	NCBI36
NG_011709.1:g.143431A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000298910.12:c.7068A>T MANE Select	ENSP00000298910.7:p.Thr2356=
ENST00000636518.1:c.865A>T
ENST00000679360.1:c.*5977A>T	ENSP00000505368.1:n.*5977A>T
ENST00000679532.1:c.2842A>T
ENST00000679683.1:c.858A>T
ENST00000680018.1:c.2513A>T	ENSP00000505347.1:n.2513A>T
ENST00000680422.1:c.4155A>T
ENST00000680425.1:c.2235A>T	ENSP00000506459.1:n.2235A>T
ENST00000680453.1:c.2525A>T
ENST00000680790.1:c.6813A>T	ENSP00000505335.1:p.Thr2271=
ENST00000681136.1:n.3052A>T
ENST00000681696.1:c.2751A>T	ENSP00000505871.1:p.Thr917=
ENST00000681773.1:n.275A>T
ENST00000298910.11:c.7068A>T	ENSP00000298910.7:p.Thr2356=
ENST00000430804.5:c.4364A>T
ENST00000479187.5:n.3749A>T
NM_198578.3:c.7068A>T	NP_940980.3:p.Thr2356=
XM_005268629.2:c.7068A>T	XP_005268686.1:p.Thr2356=
XM_011537877.1:c.7068A>T	XP_011536179.1:p.Thr2356=
XM_011537879.1:c.5865A>T	XP_011536181.1:p.Thr1955=
XR_944868.1:n.485-8614T>A
XM_005268629.4:c.7068A>T	XP_005268686.1:p.Thr2356=
XM_011537877.3:c.7068A>T	XP_011536179.1:p.Thr2356=
XM_017018787.1:c.3984A>T	XP_016874276.1:p.Thr1328=
XM_017018788.2:c.3330A>T	XP_016874277.1:p.Thr1110=
XM_024448833.1:c.5865A>T	XP_024304601.1:p.Thr1955=
XR_944868.2:n.485-8614T>A
NM_198578.4:c.7068A>T MANE Select	NP_940980.4:p.Thr2356=