Canonical Allele Identifier: CA384403565

Gene: LRRK2

Linked Data

• gnomAD v4: 12-40340317-T-C
• MyVariant Identifiers: chr12:g.40734119T>C (hg19) ; chr12:g.40340317T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40340317T>C , CM000674.2:g.40340317T>C	GRCh38
NC_000012.11:g.40734119T>C , CM000674.1:g.40734119T>C	GRCh37
NC_000012.10:g.39020386T>C	NCBI36
NG_011709.1:g.120307T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000298910.12:c.5972T>C MANE Select	ENSP00000298910.7:p.Ile1991Thr
ENST00000679360.1:c.*4881T>C	ENSP00000505368.1:n.*4881T>C
ENST00000679532.1:c.1746T>C
ENST00000680018.1:c.1417T>C	ENSP00000505347.1:n.1417T>C
ENST00000680422.1:c.1617T>C
ENST00000680425.1:c.1139T>C	ENSP00000506459.1:n.1139T>C
ENST00000680453.1:c.1429T>C
ENST00000680790.1:c.5717T>C	ENSP00000505335.1:p.Ile1906Thr
ENST00000681136.1:n.1956T>C
ENST00000681696.1:c.1655T>C	ENSP00000505871.1:p.Ile552Thr
ENST00000298910.11:c.5972T>C	ENSP00000298910.7:p.Ile1991Thr
ENST00000430804.5:c.3268T>C
ENST00000479187.5:n.2653T>C
NM_198578.3:c.5972T>C	NP_940980.3:p.Ile1991Thr
XM_005268629.2:c.5972T>C	XP_005268686.1:p.Ile1991Thr
XM_011537877.1:c.5972T>C	XP_011536179.1:p.Ile1991Thr
XM_011537878.1:c.5972T>C	XP_011536180.1:p.Ile1991Thr
XM_011537879.1:c.4769T>C	XP_011536181.1:p.Ile1590Thr
XM_005268629.4:c.5972T>C	XP_005268686.1:p.Ile1991Thr
XM_011537877.3:c.5972T>C	XP_011536179.1:p.Ile1991Thr
XM_017018787.1:c.2888T>C	XP_016874276.1:p.Ile963Thr
XM_017018788.2:c.2234T>C	XP_016874277.1:p.Ile745Thr
XM_024448833.1:c.4769T>C	XP_024304601.1:p.Ile1590Thr
NM_198578.4:c.5972T>C MANE Select	NP_940980.4:p.Ile1991Thr