Canonical Allele Identifier: CA384403552

Gene: LRRK2

Linked Data

• MyVariant Identifiers: chr12:g.40734116T>C (hg19) ; chr12:g.40340314T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40340314T>C , CM000674.2:g.40340314T>C	GRCh38
NC_000012.11:g.40734116T>C , CM000674.1:g.40734116T>C	GRCh37
NC_000012.10:g.39020383T>C	NCBI36
NG_011709.1:g.120304T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000298910.12:c.5969T>C MANE Select	ENSP00000298910.7:p.Ile1990Thr
ENST00000679360.1:c.*4878T>C	ENSP00000505368.1:n.*4878T>C
ENST00000679532.1:c.1743T>C
ENST00000680018.1:c.1414T>C	ENSP00000505347.1:n.1414T>C
ENST00000680422.1:c.1614T>C
ENST00000680425.1:c.1136T>C	ENSP00000506459.1:n.1136T>C
ENST00000680453.1:c.1426T>C
ENST00000680790.1:c.5714T>C	ENSP00000505335.1:p.Ile1905Thr
ENST00000681136.1:n.1953T>C
ENST00000681696.1:c.1652T>C	ENSP00000505871.1:p.Ile551Thr
ENST00000298910.11:c.5969T>C	ENSP00000298910.7:p.Ile1990Thr
ENST00000430804.5:c.3265T>C
ENST00000479187.5:n.2650T>C
NM_198578.3:c.5969T>C	NP_940980.3:p.Ile1990Thr
XM_005268629.2:c.5969T>C	XP_005268686.1:p.Ile1990Thr
XM_011537877.1:c.5969T>C	XP_011536179.1:p.Ile1990Thr
XM_011537878.1:c.5969T>C	XP_011536180.1:p.Ile1990Thr
XM_011537879.1:c.4766T>C	XP_011536181.1:p.Ile1589Thr
XM_005268629.4:c.5969T>C	XP_005268686.1:p.Ile1990Thr
XM_011537877.3:c.5969T>C	XP_011536179.1:p.Ile1990Thr
XM_017018787.1:c.2885T>C	XP_016874276.1:p.Ile962Thr
XM_017018788.2:c.2231T>C	XP_016874277.1:p.Ile744Thr
XM_024448833.1:c.4766T>C	XP_024304601.1:p.Ile1589Thr
NM_198578.4:c.5969T>C MANE Select	NP_940980.4:p.Ile1990Thr