Canonical Allele Identifier: CA6514629

Gene: LRRK2

Linked Data

• dbSNP Id: rs33995883
• ExAC: 12:40740686 A / T
• gnomAD v2: 12-40740686-A-T
• gnomAD v3: 12-40346884-A-T
• gnomAD v4: 12-40346884-A-T
• MyVariant Identifiers: chr12:g.40740686A>T (hg19) ; chr12:g.40346884A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40346884A>T , CM000674.2:g.40346884A>T	GRCh38
NC_000012.11:g.40740686A>T , CM000674.1:g.40740686A>T	GRCh37
NC_000012.10:g.39026953A>T	NCBI36
NG_011709.1:g.126874A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000298910.12:c.6241A>T MANE Select	ENSP00000298910.7:p.Asn2081Tyr
ENST00000636518.1:c.38A>T
ENST00000679360.1:c.*5150A>T	ENSP00000505368.1:n.*5150A>T
ENST00000679532.1:c.2015A>T
ENST00000679683.1:c.132A>T
ENST00000680018.1:c.1686A>T	ENSP00000505347.1:n.1686A>T
ENST00000680422.1:c.1886A>T
ENST00000680425.1:c.1408A>T	ENSP00000506459.1:n.1408A>T
ENST00000680453.1:c.1698A>T
ENST00000680790.1:c.5986A>T	ENSP00000505335.1:p.Asn1996Tyr
ENST00000681136.1:n.2225A>T
ENST00000681696.1:c.1924A>T	ENSP00000505871.1:p.Asn642Tyr
ENST00000298910.11:c.6241A>T	ENSP00000298910.7:p.Asn2081Tyr
ENST00000430804.5:c.3537A>T
ENST00000479187.5:n.2922A>T
NM_198578.3:c.6241A>T	NP_940980.3:p.Asn2081Tyr
XM_005268629.2:c.6241A>T	XP_005268686.1:p.Asn2081Tyr
XM_011537877.1:c.6241A>T	XP_011536179.1:p.Asn2081Tyr
XM_011537878.1:c.6241A>T	XP_011536180.1:p.Asn2081Tyr
XM_011537879.1:c.5038A>T	XP_011536181.1:p.Asn1680Tyr
XM_005268629.4:c.6241A>T	XP_005268686.1:p.Asn2081Tyr
XM_011537877.3:c.6241A>T	XP_011536179.1:p.Asn2081Tyr
XM_017018787.1:c.3157A>T	XP_016874276.1:p.Asn1053Tyr
XM_017018788.2:c.2503A>T	XP_016874277.1:p.Asn835Tyr
XM_024448833.1:c.5038A>T	XP_024304601.1:p.Asn1680Tyr
NM_198578.4:c.6241A>T MANE Select	NP_940980.4:p.Asn2081Tyr