Canonical Allele Identifier: CA479259351

Gene: LRRK2

Linked Data

• dbSNP Id: rs1944944444
• COSMIC: COSM5772902 ; COSM5772903
• MyVariant Identifiers: chr12:g.40702981C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40309179C>T , CM000674.2:g.40309179C>T	GRCh38
NC_000012.11:g.40702981C>T , CM000674.1:g.40702981C>T	GRCh37
NC_000012.10:g.38989248C>T	NCBI36
NG_011709.1:g.89169C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.4263C>T MANE Select	ENSP00000298910.7:p.Leu1421=
ENST00000679360.1:c.*3172C>T	ENSP00000505368.1:n.*3172C>T
ENST00000680790.1:c.4008C>T	ENSP00000505335.1:p.Leu1336=
ENST00000298910.11:c.4263C>T	ENSP00000298910.7:p.Leu1421=
ENST00000430804.5:c.1559C>T
ENST00000479187.5:n.944C>T
NM_198578.3:c.4263C>T	NP_940980.3:p.Leu1421=
XM_005268629.2:c.4263C>T	XP_005268686.1:p.Leu1421=
XM_011537877.1:c.4263C>T	XP_011536179.1:p.Leu1421=
XM_011537878.1:c.4263C>T	XP_011536180.1:p.Leu1421=
XM_011537879.1:c.3060C>T	XP_011536181.1:p.Leu1020=
XM_011537880.1:c.4263C>T	XP_011536182.1:p.Leu1421=
XM_011537881.1:c.4263C>T	XP_011536183.1:p.Leu1421=
XM_005268629.4:c.4263C>T	XP_005268686.1:p.Leu1421=
XM_011537877.3:c.4263C>T	XP_011536179.1:p.Leu1421=
XM_011537881.3:c.4263C>T	XP_011536183.1:p.Leu1421=
XM_017018786.2:c.4263C>T	XP_016874275.1:p.Leu1421=
XM_017018787.1:c.1179C>T	XP_016874276.1:p.Leu393=
XM_017018788.2:c.525C>T	XP_016874277.1:p.Leu175=
XM_024448833.1:c.3060C>T	XP_024304601.1:p.Leu1020=
XR_001748574.2:n.4505C>T
NM_198578.4:c.4263C>T MANE Select	NP_940980.4:p.Leu1421=