Canonical Allele Identifier: CA384406627

Gene: LRRK2

Linked Data

• gnomAD v4: 12-40351585-G-T
• MyVariant Identifiers: chr12:g.40745387G>T (hg19) ; chr12:g.40351585G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40351585G>T , CM000674.2:g.40351585G>T	GRCh38
NC_000012.11:g.40745387G>T , CM000674.1:g.40745387G>T	GRCh37
NC_000012.10:g.39031654G>T	NCBI36
NG_011709.1:g.131575G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000298910.12:c.6428G>T MANE Select	ENSP00000298910.7:p.Arg2143Leu
ENST00000636518.1:c.225G>T
ENST00000679360.1:c.*5337G>T	ENSP00000505368.1:n.*5337G>T
ENST00000679532.1:c.2202G>T
ENST00000679683.1:c.218G>T
ENST00000680018.1:c.1873G>T	ENSP00000505347.1:n.1873G>T
ENST00000680422.1:c.2073G>T
ENST00000680425.1:c.1595G>T	ENSP00000506459.1:n.1595G>T
ENST00000680453.1:c.1885G>T
ENST00000680790.1:c.6173G>T	ENSP00000505335.1:p.Arg2058Leu
ENST00000681136.1:n.2412G>T
ENST00000681696.1:c.2111G>T	ENSP00000505871.1:p.Arg704Leu
ENST00000298910.11:c.6428G>T	ENSP00000298910.7:p.Arg2143Leu
ENST00000430804.5:c.3724G>T
ENST00000479187.5:n.3109G>T
NM_198578.3:c.6428G>T	NP_940980.3:p.Arg2143Leu
XM_005268629.2:c.6428G>T	XP_005268686.1:p.Arg2143Leu
XM_011537877.1:c.6428G>T	XP_011536179.1:p.Arg2143Leu
XM_011537878.1:c.6428G>T	XP_011536180.1:p.Arg2143Leu
XM_011537879.1:c.5225G>T	XP_011536181.1:p.Arg1742Leu
XM_005268629.4:c.6428G>T	XP_005268686.1:p.Arg2143Leu
XM_011537877.3:c.6428G>T	XP_011536179.1:p.Arg2143Leu
XM_017018787.1:c.3344G>T	XP_016874276.1:p.Arg1115Leu
XM_017018788.2:c.2690G>T	XP_016874277.1:p.Arg897Leu
XM_024448833.1:c.5225G>T	XP_024304601.1:p.Arg1742Leu
NM_198578.4:c.6428G>T MANE Select	NP_940980.4:p.Arg2143Leu