Canonical Allele Identifier: CA384413641

Gene: LRRK2

Linked Data

• dbSNP Id: rs1946781736
• gnomAD v4: 12-40363551-T-G
• MyVariant Identifiers: chr12:g.40757353T>G (hg19) ; chr12:g.40363551T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40363551T>G , CM000674.2:g.40363551T>G	GRCh38
NC_000012.11:g.40757353T>G , CM000674.1:g.40757353T>G	GRCh37
NC_000012.10:g.39043620T>G	NCBI36
NG_011709.1:g.143541T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.7178T>G MANE Select	ENSP00000298910.7:p.Leu2393Ter
ENST00000636518.1:c.975T>G
ENST00000679360.1:c.*6087T>G	ENSP00000505368.1:n.*6087T>G
ENST00000679532.1:c.2952T>G
ENST00000679683.1:c.968T>G
ENST00000680018.1:c.2623T>G	ENSP00000505347.1:n.2623T>G
ENST00000680422.1:c.4265T>G
ENST00000680425.1:c.2345T>G	ENSP00000506459.1:n.2345T>G
ENST00000680453.1:c.2635T>G
ENST00000680790.1:c.6923T>G	ENSP00000505335.1:p.Leu2308Ter
ENST00000681136.1:n.3162T>G
ENST00000681696.1:c.2861T>G	ENSP00000505871.1:p.Leu954Ter
ENST00000681773.1:n.385T>G
ENST00000298910.11:c.7178T>G	ENSP00000298910.7:p.Leu2393Ter
ENST00000430804.5:c.4474T>G
ENST00000479187.5:n.3859T>G
NM_198578.3:c.7178T>G	NP_940980.3:p.Leu2393Ter
XM_005268629.2:c.7178T>G	XP_005268686.1:p.Leu2393Ter
XM_011537877.1:c.7178T>G	XP_011536179.1:p.Leu2393Ter
XM_011537879.1:c.5975T>G	XP_011536181.1:p.Leu1992Ter
XR_944868.1:n.485-8724A>C
XM_005268629.4:c.7178T>G	XP_005268686.1:p.Leu2393Ter
XM_011537877.3:c.7178T>G	XP_011536179.1:p.Leu2393Ter
XM_017018787.1:c.4094T>G	XP_016874276.1:p.Leu1365Ter
XM_017018788.2:c.3440T>G	XP_016874277.1:p.Leu1147Ter
XM_024448833.1:c.5975T>G	XP_024304601.1:p.Leu1992Ter
XR_944868.2:n.485-8724A>C
NM_198578.4:c.7178T>G MANE Select	NP_940980.4:p.Leu2393Ter