Canonical Allele Identifier: CA6514693

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 1753573
• ClinVar RCV Id: RCV002361816
• dbSNP Id: rs199733811
• ExAC: 12:40745406 C / T
• gnomAD v2: 12-40745406-C-T
• gnomAD v3: 12-40351604-C-T
• gnomAD v4: 12-40351604-C-T
• MyVariant Identifiers: chr12:g.40745406C>T (hg19) ; chr12:g.40351604C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40351604C>T , CM000674.2:g.40351604C>T	GRCh38
NC_000012.11:g.40745406C>T , CM000674.1:g.40745406C>T	GRCh37
NC_000012.10:g.39031673C>T	NCBI36
NG_011709.1:g.131594C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.6447C>T MANE Select	ENSP00000298910.7:p.Asn2149=
ENST00000636518.1:c.244C>T
ENST00000679360.1:c.*5356C>T	ENSP00000505368.1:n.*5356C>T
ENST00000679532.1:c.2221C>T
ENST00000679683.1:c.237C>T
ENST00000680018.1:c.1892C>T	ENSP00000505347.1:n.1892C>T
ENST00000680422.1:c.2092C>T
ENST00000680425.1:c.1614C>T	ENSP00000506459.1:n.1614C>T
ENST00000680453.1:c.1904C>T
ENST00000680790.1:c.6192C>T	ENSP00000505335.1:p.Asn2064=
ENST00000681136.1:n.2431C>T
ENST00000681696.1:c.2130C>T	ENSP00000505871.1:p.Asn710=
ENST00000298910.11:c.6447C>T	ENSP00000298910.7:p.Asn2149=
ENST00000430804.5:c.3743C>T
ENST00000479187.5:n.3128C>T
NM_198578.3:c.6447C>T	NP_940980.3:p.Asn2149=
XM_005268629.2:c.6447C>T	XP_005268686.1:p.Asn2149=
XM_011537877.1:c.6447C>T	XP_011536179.1:p.Asn2149=
XM_011537878.1:c.6447C>T	XP_011536180.1:p.Asn2149=
XM_011537879.1:c.5244C>T	XP_011536181.1:p.Asn1748=
XM_005268629.4:c.6447C>T	XP_005268686.1:p.Asn2149=
XM_011537877.3:c.6447C>T	XP_011536179.1:p.Asn2149=
XM_017018787.1:c.3363C>T	XP_016874276.1:p.Asn1121=
XM_017018788.2:c.2709C>T	XP_016874277.1:p.Asn903=
XM_024448833.1:c.5244C>T	XP_024304601.1:p.Asn1748=
NM_198578.4:c.6447C>T MANE Select	NP_940980.4:p.Asn2149=