Canonical Allele Identifier: CA384403624

Gene: LRRK2

Linked Data

• MyVariant Identifiers: chr12:g.40734133A>C (hg19) ; chr12:g.40340331A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40340331A>C , CM000674.2:g.40340331A>C	GRCh38
NC_000012.11:g.40734133A>C , CM000674.1:g.40734133A>C	GRCh37
NC_000012.10:g.39020400A>C	NCBI36
NG_011709.1:g.120321A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.5986A>C MANE Select	ENSP00000298910.7:p.Lys1996Gln
ENST00000679360.1:c.*4895A>C	ENSP00000505368.1:n.*4895A>C
ENST00000679532.1:c.1760A>C
ENST00000680018.1:c.1431A>C	ENSP00000505347.1:n.1431A>C
ENST00000680422.1:c.1631A>C
ENST00000680425.1:c.1153A>C	ENSP00000506459.1:n.1153A>C
ENST00000680453.1:c.1443A>C
ENST00000680790.1:c.5731A>C	ENSP00000505335.1:p.Lys1911Gln
ENST00000681136.1:n.1970A>C
ENST00000681696.1:c.1669A>C	ENSP00000505871.1:p.Lys557Gln
ENST00000298910.11:c.5986A>C	ENSP00000298910.7:p.Lys1996Gln
ENST00000430804.5:c.3282A>C
ENST00000479187.5:n.2667A>C
NM_198578.3:c.5986A>C	NP_940980.3:p.Lys1996Gln
XM_005268629.2:c.5986A>C	XP_005268686.1:p.Lys1996Gln
XM_011537877.1:c.5986A>C	XP_011536179.1:p.Lys1996Gln
XM_011537878.1:c.5986A>C	XP_011536180.1:p.Lys1996Gln
XM_011537879.1:c.4783A>C	XP_011536181.1:p.Lys1595Gln
XM_005268629.4:c.5986A>C	XP_005268686.1:p.Lys1996Gln
XM_011537877.3:c.5986A>C	XP_011536179.1:p.Lys1996Gln
XM_017018787.1:c.2902A>C	XP_016874276.1:p.Lys968Gln
XM_017018788.2:c.2248A>C	XP_016874277.1:p.Lys750Gln
XM_024448833.1:c.4783A>C	XP_024304601.1:p.Lys1595Gln
NM_198578.4:c.5986A>C MANE Select	NP_940980.4:p.Lys1996Gln