Canonical Allele Identifier: CA384413459

Gene: LRRK2

Linked Data

• MyVariant Identifiers: chr12:g.40757305A>C (hg19) ; chr12:g.40363503A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40363503A>C , CM000674.2:g.40363503A>C	GRCh38
NC_000012.11:g.40757305A>C , CM000674.1:g.40757305A>C	GRCh37
NC_000012.10:g.39043572A>C	NCBI36
NG_011709.1:g.143493A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.7130A>C MANE Select	ENSP00000298910.7:p.Asp2377Ala
ENST00000636518.1:c.927A>C
ENST00000679360.1:c.*6039A>C	ENSP00000505368.1:n.*6039A>C
ENST00000679532.1:c.2904A>C
ENST00000679683.1:c.920A>C
ENST00000680018.1:c.2575A>C	ENSP00000505347.1:n.2575A>C
ENST00000680422.1:c.4217A>C
ENST00000680425.1:c.2297A>C	ENSP00000506459.1:n.2297A>C
ENST00000680453.1:c.2587A>C
ENST00000680790.1:c.6875A>C	ENSP00000505335.1:p.Asp2292Ala
ENST00000681136.1:n.3114A>C
ENST00000681696.1:c.2813A>C	ENSP00000505871.1:p.Asp938Ala
ENST00000681773.1:n.337A>C
ENST00000298910.11:c.7130A>C	ENSP00000298910.7:p.Asp2377Ala
ENST00000430804.5:c.4426A>C
ENST00000479187.5:n.3811A>C
NM_198578.3:c.7130A>C	NP_940980.3:p.Asp2377Ala
XM_005268629.2:c.7130A>C	XP_005268686.1:p.Asp2377Ala
XM_011537877.1:c.7130A>C	XP_011536179.1:p.Asp2377Ala
XM_011537879.1:c.5927A>C	XP_011536181.1:p.Asp1976Ala
XR_944868.1:n.485-8676T>G
XM_005268629.4:c.7130A>C	XP_005268686.1:p.Asp2377Ala
XM_011537877.3:c.7130A>C	XP_011536179.1:p.Asp2377Ala
XM_017018787.1:c.4046A>C	XP_016874276.1:p.Asp1349Ala
XM_017018788.2:c.3392A>C	XP_016874277.1:p.Asp1131Ala
XM_024448833.1:c.5927A>C	XP_024304601.1:p.Asp1976Ala
XR_944868.2:n.485-8676T>G
NM_198578.4:c.7130A>C MANE Select	NP_940980.4:p.Asp2377Ala