Canonical Allele Identifier: CA384418214

Gene: LRRK2

Linked Data

• gnomAD v4: 12-40309219-C-T
• MyVariant Identifiers: chr12:g.40703021C>T (hg19) ; chr12:g.40309219C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40309219C>T , CM000674.2:g.40309219C>T	GRCh38
NC_000012.11:g.40703021C>T , CM000674.1:g.40703021C>T	GRCh37
NC_000012.10:g.38989288C>T	NCBI36
NG_011709.1:g.89209C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.4303C>T MANE Select	ENSP00000298910.7:p.Leu1435Phe
ENST00000679360.1:c.*3212C>T	ENSP00000505368.1:n.*3212C>T
ENST00000680790.1:c.4048C>T	ENSP00000505335.1:p.Leu1350Phe
ENST00000298910.11:c.4303C>T	ENSP00000298910.7:p.Leu1435Phe
ENST00000430804.5:c.1599C>T
ENST00000479187.5:n.984C>T
NM_198578.3:c.4303C>T	NP_940980.3:p.Leu1435Phe
XM_005268629.2:c.4303C>T	XP_005268686.1:p.Leu1435Phe
XM_011537877.1:c.4303C>T	XP_011536179.1:p.Leu1435Phe
XM_011537878.1:c.4303C>T	XP_011536180.1:p.Leu1435Phe
XM_011537879.1:c.3100C>T	XP_011536181.1:p.Leu1034Phe
XM_011537880.1:c.4303C>T	XP_011536182.1:p.Leu1435Phe
XM_011537881.1:c.4303C>T	XP_011536183.1:p.Leu1435Phe
XM_005268629.4:c.4303C>T	XP_005268686.1:p.Leu1435Phe
XM_011537877.3:c.4303C>T	XP_011536179.1:p.Leu1435Phe
XM_011537881.3:c.4303C>T	XP_011536183.1:p.Leu1435Phe
XM_017018786.2:c.4303C>T	XP_016874275.1:p.Leu1435Phe
XM_017018787.1:c.1219C>T	XP_016874276.1:p.Leu407Phe
XM_017018788.2:c.565C>T	XP_016874277.1:p.Leu189Phe
XM_024448833.1:c.3100C>T	XP_024304601.1:p.Leu1034Phe
XR_001748574.2:n.4545C>T
NM_198578.4:c.4303C>T MANE Select	NP_940980.4:p.Leu1435Phe