Canonical Allele Identifier: CA384420972

Gene: LRRK2

Linked Data

• MyVariant Identifiers: chr12:g.40716974T>C (hg19) ; chr12:g.40323172T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40323172T>C , CM000674.2:g.40323172T>C	GRCh38
NC_000012.11:g.40716974T>C , CM000674.1:g.40716974T>C	GRCh37
NC_000012.10:g.39003241T>C	NCBI36
NG_011709.1:g.103162T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000298910.12:c.5522T>C MANE Select	ENSP00000298910.7:p.Val1841Ala
ENST00000679360.1:c.*4431T>C	ENSP00000505368.1:n.*4431T>C
ENST00000679532.1:c.1296T>C
ENST00000680018.1:c.967T>C	ENSP00000505347.1:n.967T>C
ENST00000680422.1:c.1167T>C
ENST00000680425.1:c.689T>C	ENSP00000506459.1:n.689T>C
ENST00000680453.1:c.979T>C
ENST00000680790.1:c.5267T>C	ENSP00000505335.1:p.Val1756Ala
ENST00000681136.1:n.1506T>C
ENST00000681696.1:c.1205T>C	ENSP00000505871.1:p.Val402Ala
ENST00000298910.11:c.5522T>C	ENSP00000298910.7:p.Val1841Ala
ENST00000430804.5:c.2818T>C
ENST00000479187.5:n.2203T>C
NM_198578.3:c.5522T>C	NP_940980.3:p.Val1841Ala
XM_005268629.2:c.5522T>C	XP_005268686.1:p.Val1841Ala
XM_011537877.1:c.5522T>C	XP_011536179.1:p.Val1841Ala
XM_011537878.1:c.5522T>C	XP_011536180.1:p.Val1841Ala
XM_011537879.1:c.4319T>C	XP_011536181.1:p.Val1440Ala
XM_005268629.4:c.5522T>C	XP_005268686.1:p.Val1841Ala
XM_011537877.3:c.5522T>C	XP_011536179.1:p.Val1841Ala
XM_017018787.1:c.2438T>C	XP_016874276.1:p.Val813Ala
XM_017018788.2:c.1784T>C	XP_016874277.1:p.Val595Ala
XM_024448833.1:c.4319T>C	XP_024304601.1:p.Val1440Ala
NM_198578.4:c.5522T>C MANE Select	NP_940980.4:p.Val1841Ala