Canonical Allele Identifier: CA384407071

Gene: LRRK2

Linked Data

• MyVariant Identifiers: chr12:g.40745459T>A (hg19) ; chr12:g.40351657T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40351657T>A , CM000674.2:g.40351657T>A	GRCh38
NC_000012.11:g.40745459T>A , CM000674.1:g.40745459T>A	GRCh37
NC_000012.10:g.39031726T>A	NCBI36
NG_011709.1:g.131647T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.6500T>A MANE Select	ENSP00000298910.7:p.Ile2167Asn
ENST00000636518.1:c.297T>A
ENST00000679360.1:c.*5409T>A	ENSP00000505368.1:n.*5409T>A
ENST00000679532.1:c.2274T>A
ENST00000679683.1:c.290T>A
ENST00000680018.1:c.1945T>A	ENSP00000505347.1:n.1945T>A
ENST00000680422.1:c.2145T>A
ENST00000680425.1:c.1667T>A	ENSP00000506459.1:n.1667T>A
ENST00000680453.1:c.1957T>A
ENST00000680790.1:c.6245T>A	ENSP00000505335.1:p.Ile2082Asn
ENST00000681136.1:n.2484T>A
ENST00000681696.1:c.2183T>A	ENSP00000505871.1:p.Ile728Asn
ENST00000298910.11:c.6500T>A	ENSP00000298910.7:p.Ile2167Asn
ENST00000430804.5:c.3796T>A
ENST00000479187.5:n.3181T>A
NM_198578.3:c.6500T>A	NP_940980.3:p.Ile2167Asn
XM_005268629.2:c.6500T>A	XP_005268686.1:p.Ile2167Asn
XM_011537877.1:c.6500T>A	XP_011536179.1:p.Ile2167Asn
XM_011537878.1:c.6500T>A	XP_011536180.1:p.Ile2167Asn
XM_011537879.1:c.5297T>A	XP_011536181.1:p.Ile1766Asn
XM_005268629.4:c.6500T>A	XP_005268686.1:p.Ile2167Asn
XM_011537877.3:c.6500T>A	XP_011536179.1:p.Ile2167Asn
XM_017018787.1:c.3416T>A	XP_016874276.1:p.Ile1139Asn
XM_017018788.2:c.2762T>A	XP_016874277.1:p.Ile921Asn
XM_024448833.1:c.5297T>A	XP_024304601.1:p.Ile1766Asn
NM_198578.4:c.6500T>A MANE Select	NP_940980.4:p.Ile2167Asn