Canonical Allele Identifier: CA384403948

Gene: LRRK2

Linked Data

• MyVariant Identifiers: chr12:g.40734193G>T (hg19) ; chr12:g.40340391G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40340391G>T , CM000674.2:g.40340391G>T	GRCh38
NC_000012.11:g.40734193G>T , CM000674.1:g.40734193G>T	GRCh37
NC_000012.10:g.39020460G>T	NCBI36
NG_011709.1:g.120381G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.6046G>T MANE Select	ENSP00000298910.7:p.Ala2016Ser
ENST00000679360.1:c.*4955G>T	ENSP00000505368.1:n.*4955G>T
ENST00000679532.1:c.1820G>T
ENST00000680018.1:c.1491G>T	ENSP00000505347.1:n.1491G>T
ENST00000680422.1:c.1691G>T
ENST00000680425.1:c.1213G>T	ENSP00000506459.1:n.1213G>T
ENST00000680453.1:c.1503G>T
ENST00000680790.1:c.5791G>T	ENSP00000505335.1:p.Ala1931Ser
ENST00000681136.1:n.2030G>T
ENST00000681696.1:c.1729G>T	ENSP00000505871.1:p.Ala577Ser
ENST00000298910.11:c.6046G>T	ENSP00000298910.7:p.Ala2016Ser
ENST00000430804.5:c.3342G>T
ENST00000479187.5:n.2727G>T
NM_198578.3:c.6046G>T	NP_940980.3:p.Ala2016Ser
XM_005268629.2:c.6046G>T	XP_005268686.1:p.Ala2016Ser
XM_011537877.1:c.6046G>T	XP_011536179.1:p.Ala2016Ser
XM_011537878.1:c.6046G>T	XP_011536180.1:p.Ala2016Ser
XM_011537879.1:c.4843G>T	XP_011536181.1:p.Ala1615Ser
XM_005268629.4:c.6046G>T	XP_005268686.1:p.Ala2016Ser
XM_011537877.3:c.6046G>T	XP_011536179.1:p.Ala2016Ser
XM_017018787.1:c.2962G>T	XP_016874276.1:p.Ala988Ser
XM_017018788.2:c.2308G>T	XP_016874277.1:p.Ala770Ser
XM_024448833.1:c.4843G>T	XP_024304601.1:p.Ala1615Ser
NM_198578.4:c.6046G>T MANE Select	NP_940980.4:p.Ala2016Ser