Canonical Allele Identifier: CA479247412

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 1757200
• ClinVar RCV Id: RCV002367385
• MyVariant Identifiers: chr12:g.40757282T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40363480T>C , CM000674.2:g.40363480T>C	GRCh38
NC_000012.11:g.40757282T>C , CM000674.1:g.40757282T>C	GRCh37
NC_000012.10:g.39043549T>C	NCBI36
NG_011709.1:g.143470T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.7107T>C MANE Select	ENSP00000298910.7:p.Asn2369=
ENST00000636518.1:c.904T>C
ENST00000679360.1:c.*6016T>C	ENSP00000505368.1:n.*6016T>C
ENST00000679532.1:c.2881T>C
ENST00000679683.1:c.897T>C
ENST00000680018.1:c.2552T>C	ENSP00000505347.1:n.2552T>C
ENST00000680422.1:c.4194T>C
ENST00000680425.1:c.2274T>C	ENSP00000506459.1:n.2274T>C
ENST00000680453.1:c.2564T>C
ENST00000680790.1:c.6852T>C	ENSP00000505335.1:p.Asn2284=
ENST00000681136.1:n.3091T>C
ENST00000681696.1:c.2790T>C	ENSP00000505871.1:p.Asn930=
ENST00000681773.1:n.314T>C
ENST00000298910.11:c.7107T>C	ENSP00000298910.7:p.Asn2369=
ENST00000430804.5:c.4403T>C
ENST00000479187.5:n.3788T>C
NM_198578.3:c.7107T>C	NP_940980.3:p.Asn2369=
XM_005268629.2:c.7107T>C	XP_005268686.1:p.Asn2369=
XM_011537877.1:c.7107T>C	XP_011536179.1:p.Asn2369=
XM_011537879.1:c.5904T>C	XP_011536181.1:p.Asn1968=
XR_944868.1:n.485-8653A>G
XM_005268629.4:c.7107T>C	XP_005268686.1:p.Asn2369=
XM_011537877.3:c.7107T>C	XP_011536179.1:p.Asn2369=
XM_017018787.1:c.4023T>C	XP_016874276.1:p.Asn1341=
XM_017018788.2:c.3369T>C	XP_016874277.1:p.Asn1123=
XM_024448833.1:c.5904T>C	XP_024304601.1:p.Asn1968=
XR_944868.2:n.485-8653A>G
NM_198578.4:c.7107T>C MANE Select	NP_940980.4:p.Asn2369=