Canonical Allele Identifier: CA384419718

Gene: LRRK2

Linked Data

• MyVariant Identifiers: chr12:g.40713941T>A (hg19) ; chr12:g.40320139T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40320139T>A , CM000674.2:g.40320139T>A	GRCh38
NC_000012.11:g.40713941T>A , CM000674.1:g.40713941T>A	GRCh37
NC_000012.10:g.39000208T>A	NCBI36
NG_011709.1:g.100129T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.4979T>A MANE Select	ENSP00000298910.7:p.Leu1660Ter
ENST00000679360.1:c.*3888T>A	ENSP00000505368.1:n.*3888T>A
ENST00000679532.1:c.753T>A
ENST00000680018.1:c.424T>A	ENSP00000505347.1:n.424T>A
ENST00000680422.1:c.624T>A
ENST00000680425.1:c.183-895T>A	ENSP00000506459.1:n.183-895T>A
ENST00000680453.1:c.473-895T>A
ENST00000680790.1:c.4724T>A	ENSP00000505335.1:p.Leu1575Ter
ENST00000681136.1:n.963T>A
ENST00000681696.1:c.662T>A	ENSP00000505871.1:p.Leu221Ter
ENST00000298910.11:c.4979T>A	ENSP00000298910.7:p.Leu1660Ter
ENST00000430804.5:c.2275T>A
ENST00000479187.5:n.1660T>A
NM_198578.3:c.4979T>A	NP_940980.3:p.Leu1660Ter
XM_005268629.2:c.4979T>A	XP_005268686.1:p.Leu1660Ter
XM_011537877.1:c.4979T>A	XP_011536179.1:p.Leu1660Ter
XM_011537878.1:c.4979T>A	XP_011536180.1:p.Leu1660Ter
XM_011537879.1:c.3776T>A	XP_011536181.1:p.Leu1259Ter
XM_011537881.1:c.4828-895T>A	XP_011536183.1:n.4828-895T>A
XM_005268629.4:c.4979T>A	XP_005268686.1:p.Leu1660Ter
XM_011537877.3:c.4979T>A	XP_011536179.1:p.Leu1660Ter
XM_011537881.3:c.4828-895T>A	XP_011536183.1:n.4828-895T>A
XM_017018787.1:c.1895T>A	XP_016874276.1:p.Leu632Ter
XM_017018788.2:c.1241T>A	XP_016874277.1:p.Leu414Ter
XM_024448833.1:c.3776T>A	XP_024304601.1:p.Leu1259Ter
XR_001748574.2:n.5347T>A
NM_198578.4:c.4979T>A MANE Select	NP_940980.4:p.Leu1660Ter