Canonical Allele Identifier: CA384419697

Gene: LRRK2

Linked Data

• MyVariant Identifiers: chr12:g.40713932A>C (hg19) ; chr12:g.40320130A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40320130A>C , CM000674.2:g.40320130A>C	GRCh38
NC_000012.11:g.40713932A>C , CM000674.1:g.40713932A>C	GRCh37
NC_000012.10:g.39000199A>C	NCBI36
NG_011709.1:g.100120A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.4970A>C MANE Select	ENSP00000298910.7:p.Gln1657Pro
ENST00000679360.1:c.*3879A>C	ENSP00000505368.1:n.*3879A>C
ENST00000679532.1:c.744A>C
ENST00000680018.1:c.415A>C	ENSP00000505347.1:n.415A>C
ENST00000680422.1:c.615A>C
ENST00000680425.1:c.183-904A>C	ENSP00000506459.1:n.183-904A>C
ENST00000680453.1:c.473-904A>C
ENST00000680790.1:c.4715A>C	ENSP00000505335.1:p.Gln1572Pro
ENST00000681136.1:n.954A>C
ENST00000681696.1:c.653A>C	ENSP00000505871.1:p.Gln218Pro
ENST00000298910.11:c.4970A>C	ENSP00000298910.7:p.Gln1657Pro
ENST00000430804.5:c.2266A>C
ENST00000479187.5:n.1651A>C
NM_198578.3:c.4970A>C	NP_940980.3:p.Gln1657Pro
XM_005268629.2:c.4970A>C	XP_005268686.1:p.Gln1657Pro
XM_011537877.1:c.4970A>C	XP_011536179.1:p.Gln1657Pro
XM_011537878.1:c.4970A>C	XP_011536180.1:p.Gln1657Pro
XM_011537879.1:c.3767A>C	XP_011536181.1:p.Gln1256Pro
XM_011537881.1:c.4828-904A>C	XP_011536183.1:n.4828-904A>C
XM_005268629.4:c.4970A>C	XP_005268686.1:p.Gln1657Pro
XM_011537877.3:c.4970A>C	XP_011536179.1:p.Gln1657Pro
XM_011537881.3:c.4828-904A>C	XP_011536183.1:n.4828-904A>C
XM_017018787.1:c.1886A>C	XP_016874276.1:p.Gln629Pro
XM_017018788.2:c.1232A>C	XP_016874277.1:p.Gln411Pro
XM_024448833.1:c.3767A>C	XP_024304601.1:p.Gln1256Pro
XR_001748574.2:n.5338A>C
NM_198578.4:c.4970A>C MANE Select	NP_940980.4:p.Gln1657Pro