Canonical Allele Identifier: CA384419530

Gene: LRRK2

Linked Data

• gnomAD v4: 12-40320057-A-C
• MyVariant Identifiers: chr12:g.40713859A>C (hg19) ; chr12:g.40320057A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40320057A>C , CM000674.2:g.40320057A>C	GRCh38
NC_000012.11:g.40713859A>C , CM000674.1:g.40713859A>C	GRCh37
NC_000012.10:g.39000126A>C	NCBI36
NG_011709.1:g.100047A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.4897A>C MANE Select	ENSP00000298910.7:p.Lys1633Gln
ENST00000679360.1:c.*3806A>C	ENSP00000505368.1:n.*3806A>C
ENST00000679532.1:c.671A>C
ENST00000680018.1:c.342A>C	ENSP00000505347.1:n.342A>C
ENST00000680422.1:c.542A>C
ENST00000680425.1:c.183-977A>C	ENSP00000506459.1:n.183-977A>C
ENST00000680453.1:c.473-977A>C
ENST00000680790.1:c.4642A>C	ENSP00000505335.1:p.Lys1548Gln
ENST00000681136.1:n.881A>C
ENST00000681696.1:c.580A>C	ENSP00000505871.1:p.Lys194Gln
ENST00000298910.11:c.4897A>C	ENSP00000298910.7:p.Lys1633Gln
ENST00000430804.5:c.2193A>C
ENST00000479187.5:n.1578A>C
ENST00000481256.1:n.556A>C
NM_198578.3:c.4897A>C	NP_940980.3:p.Lys1633Gln
XM_005268629.2:c.4897A>C	XP_005268686.1:p.Lys1633Gln
XM_011537877.1:c.4897A>C	XP_011536179.1:p.Lys1633Gln
XM_011537878.1:c.4897A>C	XP_011536180.1:p.Lys1633Gln
XM_011537879.1:c.3694A>C	XP_011536181.1:p.Lys1232Gln
XM_011537881.1:c.4828-977A>C	XP_011536183.1:n.4828-977A>C
XM_005268629.4:c.4897A>C	XP_005268686.1:p.Lys1633Gln
XM_011537877.3:c.4897A>C	XP_011536179.1:p.Lys1633Gln
XM_011537881.3:c.4828-977A>C	XP_011536183.1:n.4828-977A>C
XM_017018787.1:c.1813A>C	XP_016874276.1:p.Lys605Gln
XM_017018788.2:c.1159A>C	XP_016874277.1:p.Lys387Gln
XM_024448833.1:c.3694A>C	XP_024304601.1:p.Lys1232Gln
XR_001748574.2:n.5265A>C
NM_198578.4:c.4897A>C MANE Select	NP_940980.4:p.Lys1633Gln