Canonical Allele Identifier: CA384413416

Gene: LRRK2

Linked Data

• MyVariant Identifiers: chr12:g.40757293T>C (hg19) ; chr12:g.40363491T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40363491T>C , CM000674.2:g.40363491T>C	GRCh38
NC_000012.11:g.40757293T>C , CM000674.1:g.40757293T>C	GRCh37
NC_000012.10:g.39043560T>C	NCBI36
NG_011709.1:g.143481T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.7118T>C MANE Select	ENSP00000298910.7:p.Val2373Ala
ENST00000636518.1:c.915T>C
ENST00000679360.1:c.*6027T>C	ENSP00000505368.1:n.*6027T>C
ENST00000679532.1:c.2892T>C
ENST00000679683.1:c.908T>C
ENST00000680018.1:c.2563T>C	ENSP00000505347.1:n.2563T>C
ENST00000680422.1:c.4205T>C
ENST00000680425.1:c.2285T>C	ENSP00000506459.1:n.2285T>C
ENST00000680453.1:c.2575T>C
ENST00000680790.1:c.6863T>C	ENSP00000505335.1:p.Val2288Ala
ENST00000681136.1:n.3102T>C
ENST00000681696.1:c.2801T>C	ENSP00000505871.1:p.Val934Ala
ENST00000681773.1:n.325T>C
ENST00000298910.11:c.7118T>C	ENSP00000298910.7:p.Val2373Ala
ENST00000430804.5:c.4414T>C
ENST00000479187.5:n.3799T>C
NM_198578.3:c.7118T>C	NP_940980.3:p.Val2373Ala
XM_005268629.2:c.7118T>C	XP_005268686.1:p.Val2373Ala
XM_011537877.1:c.7118T>C	XP_011536179.1:p.Val2373Ala
XM_011537879.1:c.5915T>C	XP_011536181.1:p.Val1972Ala
XR_944868.1:n.485-8664A>G
XM_005268629.4:c.7118T>C	XP_005268686.1:p.Val2373Ala
XM_011537877.3:c.7118T>C	XP_011536179.1:p.Val2373Ala
XM_017018787.1:c.4034T>C	XP_016874276.1:p.Val1345Ala
XM_017018788.2:c.3380T>C	XP_016874277.1:p.Val1127Ala
XM_024448833.1:c.5915T>C	XP_024304601.1:p.Val1972Ala
XR_944868.2:n.485-8664A>G
NM_198578.4:c.7118T>C MANE Select	NP_940980.4:p.Val2373Ala