Canonical Allele Identifier: CA384413423

Gene: LRRK2

Linked Data

• MyVariant Identifiers: chr12:g.40757296A>C (hg19) ; chr12:g.40363494A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40363494A>C , CM000674.2:g.40363494A>C	GRCh38
NC_000012.11:g.40757296A>C , CM000674.1:g.40757296A>C	GRCh37
NC_000012.10:g.39043563A>C	NCBI36
NG_011709.1:g.143484A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.7121A>C MANE Select	ENSP00000298910.7:p.Glu2374Ala
ENST00000636518.1:c.918A>C
ENST00000679360.1:c.*6030A>C	ENSP00000505368.1:n.*6030A>C
ENST00000679532.1:c.2895A>C
ENST00000679683.1:c.911A>C
ENST00000680018.1:c.2566A>C	ENSP00000505347.1:n.2566A>C
ENST00000680422.1:c.4208A>C
ENST00000680425.1:c.2288A>C	ENSP00000506459.1:n.2288A>C
ENST00000680453.1:c.2578A>C
ENST00000680790.1:c.6866A>C	ENSP00000505335.1:p.Glu2289Ala
ENST00000681136.1:n.3105A>C
ENST00000681696.1:c.2804A>C	ENSP00000505871.1:p.Glu935Ala
ENST00000681773.1:n.328A>C
ENST00000298910.11:c.7121A>C	ENSP00000298910.7:p.Glu2374Ala
ENST00000430804.5:c.4417A>C
ENST00000479187.5:n.3802A>C
NM_198578.3:c.7121A>C	NP_940980.3:p.Glu2374Ala
XM_005268629.2:c.7121A>C	XP_005268686.1:p.Glu2374Ala
XM_011537877.1:c.7121A>C	XP_011536179.1:p.Glu2374Ala
XM_011537879.1:c.5918A>C	XP_011536181.1:p.Glu1973Ala
XR_944868.1:n.485-8667T>G
XM_005268629.4:c.7121A>C	XP_005268686.1:p.Glu2374Ala
XM_011537877.3:c.7121A>C	XP_011536179.1:p.Glu2374Ala
XM_017018787.1:c.4037A>C	XP_016874276.1:p.Glu1346Ala
XM_017018788.2:c.3383A>C	XP_016874277.1:p.Glu1128Ala
XM_024448833.1:c.5918A>C	XP_024304601.1:p.Glu1973Ala
XR_944868.2:n.485-8667T>G
NM_198578.4:c.7121A>C MANE Select	NP_940980.4:p.Glu2374Ala