Canonical Allele Identifier: CA235333662

Gene: LRRK2

Linked Data

• dbSNP Id: rs972524444
• gnomAD v4: 12-40340342-T-C
• MyVariant Identifiers: chr12:g.40734144T>C (hg19) ; chr12:g.40340342T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40340342T>C , CM000674.2:g.40340342T>C	GRCh38
NC_000012.11:g.40734144T>C , CM000674.1:g.40734144T>C	GRCh37
NC_000012.10:g.39020411T>C	NCBI36
NG_011709.1:g.120332T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.5997T>C MANE Select	ENSP00000298910.7:p.Asn1999=
ENST00000679360.1:c.*4906T>C	ENSP00000505368.1:n.*4906T>C
ENST00000679532.1:c.1771T>C
ENST00000680018.1:c.1442T>C	ENSP00000505347.1:n.1442T>C
ENST00000680422.1:c.1642T>C
ENST00000680425.1:c.1164T>C	ENSP00000506459.1:n.1164T>C
ENST00000680453.1:c.1454T>C
ENST00000680790.1:c.5742T>C	ENSP00000505335.1:p.Asn1914=
ENST00000681136.1:n.1981T>C
ENST00000681696.1:c.1680T>C	ENSP00000505871.1:p.Asn560=
ENST00000298910.11:c.5997T>C	ENSP00000298910.7:p.Asn1999=
ENST00000430804.5:c.3293T>C
ENST00000479187.5:n.2678T>C
NM_198578.3:c.5997T>C	NP_940980.3:p.Asn1999=
XM_005268629.2:c.5997T>C	XP_005268686.1:p.Asn1999=
XM_011537877.1:c.5997T>C	XP_011536179.1:p.Asn1999=
XM_011537878.1:c.5997T>C	XP_011536180.1:p.Asn1999=
XM_011537879.1:c.4794T>C	XP_011536181.1:p.Asn1598=
XM_005268629.4:c.5997T>C	XP_005268686.1:p.Asn1999=
XM_011537877.3:c.5997T>C	XP_011536179.1:p.Asn1999=
XM_017018787.1:c.2913T>C	XP_016874276.1:p.Asn971=
XM_017018788.2:c.2259T>C	XP_016874277.1:p.Asn753=
XM_024448833.1:c.4794T>C	XP_024304601.1:p.Asn1598=
NM_198578.4:c.5997T>C MANE Select	NP_940980.4:p.Asn1999=