Canonical Allele Identifier: CA479247149

Gene: LRRK2

Linked Data

• MyVariant Identifiers: chr12:g.40757216A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40363414A>T , CM000674.2:g.40363414A>T	GRCh38
NC_000012.11:g.40757216A>T , CM000674.1:g.40757216A>T	GRCh37
NC_000012.10:g.39043483A>T	NCBI36
NG_011709.1:g.143404A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.7041A>T MANE Select	ENSP00000298910.7:p.Ala2347=
ENST00000636518.1:c.838A>T
ENST00000679360.1:c.*5950A>T	ENSP00000505368.1:n.*5950A>T
ENST00000679532.1:c.2815A>T
ENST00000679683.1:c.831A>T
ENST00000680018.1:c.2486A>T	ENSP00000505347.1:n.2486A>T
ENST00000680422.1:c.4128A>T
ENST00000680425.1:c.2208A>T	ENSP00000506459.1:n.2208A>T
ENST00000680453.1:c.2498A>T
ENST00000680790.1:c.6786A>T	ENSP00000505335.1:p.Ala2262=
ENST00000681136.1:n.3025A>T
ENST00000681696.1:c.2724A>T	ENSP00000505871.1:p.Ala908=
ENST00000681773.1:n.248A>T
ENST00000298910.11:c.7041A>T	ENSP00000298910.7:p.Ala2347=
ENST00000430804.5:c.4337A>T
ENST00000479187.5:n.3722A>T
NM_198578.3:c.7041A>T	NP_940980.3:p.Ala2347=
XM_005268629.2:c.7041A>T	XP_005268686.1:p.Ala2347=
XM_011537877.1:c.7041A>T	XP_011536179.1:p.Ala2347=
XM_011537879.1:c.5838A>T	XP_011536181.1:p.Ala1946=
XR_944868.1:n.485-8587T>A
XM_005268629.4:c.7041A>T	XP_005268686.1:p.Ala2347=
XM_011537877.3:c.7041A>T	XP_011536179.1:p.Ala2347=
XM_017018787.1:c.3957A>T	XP_016874276.1:p.Ala1319=
XM_017018788.2:c.3303A>T	XP_016874277.1:p.Ala1101=
XM_024448833.1:c.5838A>T	XP_024304601.1:p.Ala1946=
XR_944868.2:n.485-8587T>A
NM_198578.4:c.7041A>T MANE Select	NP_940980.4:p.Ala2347=