Canonical Allele Identifier: CA479247508

Gene: LRRK2

Linked Data

• gnomAD v4: 12-40363507-G-A
• COSMIC: COSM162265 ; COSM162266
• MyVariant Identifiers: chr12:g.40757309G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40363507G>A , CM000674.2:g.40363507G>A	GRCh38
NC_000012.11:g.40757309G>A , CM000674.1:g.40757309G>A	GRCh37
NC_000012.10:g.39043576G>A	NCBI36
NG_011709.1:g.143497G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.7134G>A MANE Select	ENSP00000298910.7:p.Lys2378=
ENST00000636518.1:c.931G>A
ENST00000679360.1:c.*6043G>A	ENSP00000505368.1:n.*6043G>A
ENST00000679532.1:c.2908G>A
ENST00000679683.1:c.924G>A
ENST00000680018.1:c.2579G>A	ENSP00000505347.1:n.2579G>A
ENST00000680422.1:c.4221G>A
ENST00000680425.1:c.2301G>A	ENSP00000506459.1:n.2301G>A
ENST00000680453.1:c.2591G>A
ENST00000680790.1:c.6879G>A	ENSP00000505335.1:p.Lys2293=
ENST00000681136.1:n.3118G>A
ENST00000681696.1:c.2817G>A	ENSP00000505871.1:p.Lys939=
ENST00000681773.1:n.341G>A
ENST00000298910.11:c.7134G>A	ENSP00000298910.7:p.Lys2378=
ENST00000430804.5:c.4430G>A
ENST00000479187.5:n.3815G>A
NM_198578.3:c.7134G>A	NP_940980.3:p.Lys2378=
XM_005268629.2:c.7134G>A	XP_005268686.1:p.Lys2378=
XM_011537877.1:c.7134G>A	XP_011536179.1:p.Lys2378=
XM_011537879.1:c.5931G>A	XP_011536181.1:p.Lys1977=
XR_944868.1:n.485-8680C>T
XM_005268629.4:c.7134G>A	XP_005268686.1:p.Lys2378=
XM_011537877.3:c.7134G>A	XP_011536179.1:p.Lys2378=
XM_017018787.1:c.4050G>A	XP_016874276.1:p.Lys1350=
XM_017018788.2:c.3396G>A	XP_016874277.1:p.Lys1132=
XM_024448833.1:c.5931G>A	XP_024304601.1:p.Lys1977=
XR_944868.2:n.485-8680C>T
NM_198578.4:c.7134G>A MANE Select	NP_940980.4:p.Lys2378=