Canonical Allele Identifier: CA384413449

Gene: LRRK2

Linked Data

• gnomAD v4: 12-40363501-G-A
• MyVariant Identifiers: chr12:g.40757303G>A (hg19) ; chr12:g.40363501G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40363501G>A , CM000674.2:g.40363501G>A	GRCh38
NC_000012.11:g.40757303G>A , CM000674.1:g.40757303G>A	GRCh37
NC_000012.10:g.39043570G>A	NCBI36
NG_011709.1:g.143491G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.7128G>A MANE Select	ENSP00000298910.7:p.Trp2376Ter
ENST00000636518.1:c.925G>A
ENST00000679360.1:c.*6037G>A	ENSP00000505368.1:n.*6037G>A
ENST00000679532.1:c.2902G>A
ENST00000679683.1:c.918G>A
ENST00000680018.1:c.2573G>A	ENSP00000505347.1:n.2573G>A
ENST00000680422.1:c.4215G>A
ENST00000680425.1:c.2295G>A	ENSP00000506459.1:n.2295G>A
ENST00000680453.1:c.2585G>A
ENST00000680790.1:c.6873G>A	ENSP00000505335.1:p.Trp2291Ter
ENST00000681136.1:n.3112G>A
ENST00000681696.1:c.2811G>A	ENSP00000505871.1:p.Trp937Ter
ENST00000681773.1:n.335G>A
ENST00000298910.11:c.7128G>A	ENSP00000298910.7:p.Trp2376Ter
ENST00000430804.5:c.4424G>A
ENST00000479187.5:n.3809G>A
NM_198578.3:c.7128G>A	NP_940980.3:p.Trp2376Ter
XM_005268629.2:c.7128G>A	XP_005268686.1:p.Trp2376Ter
XM_011537877.1:c.7128G>A	XP_011536179.1:p.Trp2376Ter
XM_011537879.1:c.5925G>A	XP_011536181.1:p.Trp1975Ter
XR_944868.1:n.485-8674C>T
XM_005268629.4:c.7128G>A	XP_005268686.1:p.Trp2376Ter
XM_011537877.3:c.7128G>A	XP_011536179.1:p.Trp2376Ter
XM_017018787.1:c.4044G>A	XP_016874276.1:p.Trp1348Ter
XM_017018788.2:c.3390G>A	XP_016874277.1:p.Trp1130Ter
XM_024448833.1:c.5925G>A	XP_024304601.1:p.Trp1975Ter
XR_944868.2:n.485-8674C>T
NM_198578.4:c.7128G>A MANE Select	NP_940980.4:p.Trp2376Ter