Canonical Allele Identifier: CA384413367

Gene: LRRK2

Linked Data

• COSMIC: COSM1492878 ; COSM1492879
• MyVariant Identifiers: chr12:g.40757280A>G (hg19) ; chr12:g.40363478A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40363478A>G , CM000674.2:g.40363478A>G	GRCh38
NC_000012.11:g.40757280A>G , CM000674.1:g.40757280A>G	GRCh37
NC_000012.10:g.39043547A>G	NCBI36
NG_011709.1:g.143468A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.7105A>G MANE Select	ENSP00000298910.7:p.Asn2369Asp
ENST00000636518.1:c.902A>G
ENST00000679360.1:c.*6014A>G	ENSP00000505368.1:n.*6014A>G
ENST00000679532.1:c.2879A>G
ENST00000679683.1:c.895A>G
ENST00000680018.1:c.2550A>G	ENSP00000505347.1:n.2550A>G
ENST00000680422.1:c.4192A>G
ENST00000680425.1:c.2272A>G	ENSP00000506459.1:n.2272A>G
ENST00000680453.1:c.2562A>G
ENST00000680790.1:c.6850A>G	ENSP00000505335.1:p.Asn2284Asp
ENST00000681136.1:n.3089A>G
ENST00000681696.1:c.2788A>G	ENSP00000505871.1:p.Asn930Asp
ENST00000681773.1:n.312A>G
ENST00000298910.11:c.7105A>G	ENSP00000298910.7:p.Asn2369Asp
ENST00000430804.5:c.4401A>G
ENST00000479187.5:n.3786A>G
NM_198578.3:c.7105A>G	NP_940980.3:p.Asn2369Asp
XM_005268629.2:c.7105A>G	XP_005268686.1:p.Asn2369Asp
XM_011537877.1:c.7105A>G	XP_011536179.1:p.Asn2369Asp
XM_011537879.1:c.5902A>G	XP_011536181.1:p.Asn1968Asp
XR_944868.1:n.485-8651T>C
XM_005268629.4:c.7105A>G	XP_005268686.1:p.Asn2369Asp
XM_011537877.3:c.7105A>G	XP_011536179.1:p.Asn2369Asp
XM_017018787.1:c.4021A>G	XP_016874276.1:p.Asn1341Asp
XM_017018788.2:c.3367A>G	XP_016874277.1:p.Asn1123Asp
XM_024448833.1:c.5902A>G	XP_024304601.1:p.Asn1968Asp
XR_944868.2:n.485-8651T>C
NM_198578.4:c.7105A>G MANE Select	NP_940980.4:p.Asn2369Asp