Canonical Allele Identifier: CA384403593

Gene: LRRK2

Linked Data

• MyVariant Identifiers: chr12:g.40734127G>A (hg19) ; chr12:g.40340325G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40340325G>A , CM000674.2:g.40340325G>A	GRCh38
NC_000012.11:g.40734127G>A , CM000674.1:g.40734127G>A	GRCh37
NC_000012.10:g.39020394G>A	NCBI36
NG_011709.1:g.120315G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.5980G>A MANE Select	ENSP00000298910.7:p.Asp1994Asn
ENST00000679360.1:c.*4889G>A	ENSP00000505368.1:n.*4889G>A
ENST00000679532.1:c.1754G>A
ENST00000680018.1:c.1425G>A	ENSP00000505347.1:n.1425G>A
ENST00000680422.1:c.1625G>A
ENST00000680425.1:c.1147G>A	ENSP00000506459.1:n.1147G>A
ENST00000680453.1:c.1437G>A
ENST00000680790.1:c.5725G>A	ENSP00000505335.1:p.Asp1909Asn
ENST00000681136.1:n.1964G>A
ENST00000681696.1:c.1663G>A	ENSP00000505871.1:p.Asp555Asn
ENST00000298910.11:c.5980G>A	ENSP00000298910.7:p.Asp1994Asn
ENST00000430804.5:c.3276G>A
ENST00000479187.5:n.2661G>A
NM_198578.3:c.5980G>A	NP_940980.3:p.Asp1994Asn
XM_005268629.2:c.5980G>A	XP_005268686.1:p.Asp1994Asn
XM_011537877.1:c.5980G>A	XP_011536179.1:p.Asp1994Asn
XM_011537878.1:c.5980G>A	XP_011536180.1:p.Asp1994Asn
XM_011537879.1:c.4777G>A	XP_011536181.1:p.Asp1593Asn
XM_005268629.4:c.5980G>A	XP_005268686.1:p.Asp1994Asn
XM_011537877.3:c.5980G>A	XP_011536179.1:p.Asp1994Asn
XM_017018787.1:c.2896G>A	XP_016874276.1:p.Asp966Asn
XM_017018788.2:c.2242G>A	XP_016874277.1:p.Asp748Asn
XM_024448833.1:c.4777G>A	XP_024304601.1:p.Asp1593Asn
NM_198578.4:c.5980G>A MANE Select	NP_940980.4:p.Asp1994Asn