Canonical Allele Identifier: CA384403962

Gene: LRRK2

Linked Data

• MyVariant Identifiers: chr12:g.40734197A>C (hg19) ; chr12:g.40340395A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40340395A>C , CM000674.2:g.40340395A>C	GRCh38
NC_000012.11:g.40734197A>C , CM000674.1:g.40734197A>C	GRCh37
NC_000012.10:g.39020464A>C	NCBI36
NG_011709.1:g.120385A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.6050A>C MANE Select	ENSP00000298910.7:p.Asp2017Ala
ENST00000679360.1:c.*4959A>C	ENSP00000505368.1:n.*4959A>C
ENST00000679532.1:c.1824A>C
ENST00000680018.1:c.1495A>C	ENSP00000505347.1:n.1495A>C
ENST00000680422.1:c.1695A>C
ENST00000680425.1:c.1217A>C	ENSP00000506459.1:n.1217A>C
ENST00000680453.1:c.1507A>C
ENST00000680790.1:c.5795A>C	ENSP00000505335.1:p.Asp1932Ala
ENST00000681136.1:n.2034A>C
ENST00000681696.1:c.1733A>C	ENSP00000505871.1:p.Asp578Ala
ENST00000298910.11:c.6050A>C	ENSP00000298910.7:p.Asp2017Ala
ENST00000430804.5:c.3346A>C
ENST00000479187.5:n.2731A>C
NM_198578.3:c.6050A>C	NP_940980.3:p.Asp2017Ala
XM_005268629.2:c.6050A>C	XP_005268686.1:p.Asp2017Ala
XM_011537877.1:c.6050A>C	XP_011536179.1:p.Asp2017Ala
XM_011537878.1:c.6050A>C	XP_011536180.1:p.Asp2017Ala
XM_011537879.1:c.4847A>C	XP_011536181.1:p.Asp1616Ala
XM_005268629.4:c.6050A>C	XP_005268686.1:p.Asp2017Ala
XM_011537877.3:c.6050A>C	XP_011536179.1:p.Asp2017Ala
XM_017018787.1:c.2966A>C	XP_016874276.1:p.Asp989Ala
XM_017018788.2:c.2312A>C	XP_016874277.1:p.Asp771Ala
XM_024448833.1:c.4847A>C	XP_024304601.1:p.Asp1616Ala
NM_198578.4:c.6050A>C MANE Select	NP_940980.4:p.Asp2017Ala