Canonical Allele Identifier: CA235343719

Gene: LRRK2

Linked Data

• dbSNP Id: rs201215607
• gnomAD v4: 12-40351687-G-C
• MyVariant Identifiers: chr12:g.40745489G>C (hg19) ; chr12:g.40351687G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40351687G>C , CM000674.2:g.40351687G>C	GRCh38
NC_000012.11:g.40745489G>C , CM000674.1:g.40745489G>C	GRCh37
NC_000012.10:g.39031756G>C	NCBI36
NG_011709.1:g.131677G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.6530G>C MANE Select	ENSP00000298910.7:p.Gly2177Ala
ENST00000636518.1:c.327G>C
ENST00000679360.1:c.*5439G>C	ENSP00000505368.1:n.*5439G>C
ENST00000679532.1:c.2304G>C
ENST00000679683.1:c.320G>C
ENST00000680018.1:c.1975G>C	ENSP00000505347.1:n.1975G>C
ENST00000680422.1:c.2175G>C
ENST00000680425.1:c.1697G>C	ENSP00000506459.1:n.1697G>C
ENST00000680453.1:c.1987G>C
ENST00000680790.1:c.6275G>C	ENSP00000505335.1:p.Gly2092Ala
ENST00000681136.1:n.2514G>C
ENST00000681696.1:c.2213G>C	ENSP00000505871.1:p.Gly738Ala
ENST00000298910.11:c.6530G>C	ENSP00000298910.7:p.Gly2177Ala
ENST00000430804.5:c.3826G>C
ENST00000479187.5:n.3211G>C
NM_198578.3:c.6530G>C	NP_940980.3:p.Gly2177Ala
XM_005268629.2:c.6530G>C	XP_005268686.1:p.Gly2177Ala
XM_011537877.1:c.6530G>C	XP_011536179.1:p.Gly2177Ala
XM_011537878.1:c.6530G>C	XP_011536180.1:p.Gly2177Ala
XM_011537879.1:c.5327G>C	XP_011536181.1:p.Gly1776Ala
XM_005268629.4:c.6530G>C	XP_005268686.1:p.Gly2177Ala
XM_011537877.3:c.6530G>C	XP_011536179.1:p.Gly2177Ala
XM_017018787.1:c.3446G>C	XP_016874276.1:p.Gly1149Ala
XM_017018788.2:c.2792G>C	XP_016874277.1:p.Gly931Ala
XM_024448833.1:c.5327G>C	XP_024304601.1:p.Gly1776Ala
NM_198578.4:c.6530G>C MANE Select	NP_940980.4:p.Gly2177Ala