Canonical Allele Identifier: CA479247558

Gene: LRRK2

Linked Data

• MyVariant Identifiers: chr12:g.40757324C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40363522C>A , CM000674.2:g.40363522C>A	GRCh38
NC_000012.11:g.40757324C>A , CM000674.1:g.40757324C>A	GRCh37
NC_000012.10:g.39043591C>A	NCBI36
NG_011709.1:g.143512C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.7149C>A MANE Select	ENSP00000298910.7:p.Leu2383=
ENST00000636518.1:c.946C>A
ENST00000679360.1:c.*6058C>A	ENSP00000505368.1:n.*6058C>A
ENST00000679532.1:c.2923C>A
ENST00000679683.1:c.939C>A
ENST00000680018.1:c.2594C>A	ENSP00000505347.1:n.2594C>A
ENST00000680422.1:c.4236C>A
ENST00000680425.1:c.2316C>A	ENSP00000506459.1:n.2316C>A
ENST00000680453.1:c.2606C>A
ENST00000680790.1:c.6894C>A	ENSP00000505335.1:p.Leu2298=
ENST00000681136.1:n.3133C>A
ENST00000681696.1:c.2832C>A	ENSP00000505871.1:p.Leu944=
ENST00000681773.1:n.356C>A
ENST00000298910.11:c.7149C>A	ENSP00000298910.7:p.Leu2383=
ENST00000430804.5:c.4445C>A
ENST00000479187.5:n.3830C>A
NM_198578.3:c.7149C>A	NP_940980.3:p.Leu2383=
XM_005268629.2:c.7149C>A	XP_005268686.1:p.Leu2383=
XM_011537877.1:c.7149C>A	XP_011536179.1:p.Leu2383=
XM_011537879.1:c.5946C>A	XP_011536181.1:p.Leu1982=
XR_944868.1:n.485-8695G>T
XM_005268629.4:c.7149C>A	XP_005268686.1:p.Leu2383=
XM_011537877.3:c.7149C>A	XP_011536179.1:p.Leu2383=
XM_017018787.1:c.4065C>A	XP_016874276.1:p.Leu1355=
XM_017018788.2:c.3411C>A	XP_016874277.1:p.Leu1137=
XM_024448833.1:c.5946C>A	XP_024304601.1:p.Leu1982=
XR_944868.2:n.485-8695G>T
NM_198578.4:c.7149C>A MANE Select	NP_940980.4:p.Leu2383=