Canonical Allele Identifier: CA384419399

Gene: LRRK2

Linked Data

• dbSNP Id: rs1200739340
• gnomAD v2: 12-40713794-T-C
• gnomAD v4: 12-40319992-T-C
• MyVariant Identifiers: chr12:g.40713794T>C (hg19) ; chr12:g.40319992T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40319992T>C , CM000674.2:g.40319992T>C	GRCh38
NC_000012.11:g.40713794T>C , CM000674.1:g.40713794T>C	GRCh37
NC_000012.10:g.39000061T>C	NCBI36
NG_011709.1:g.99982T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000298910.12:c.4832T>C MANE Select	ENSP00000298910.7:p.Leu1611Ser
ENST00000679360.1:c.*3741T>C	ENSP00000505368.1:n.*3741T>C
ENST00000679532.1:c.606T>C
ENST00000680018.1:c.277T>C	ENSP00000505347.1:n.277T>C
ENST00000680422.1:c.477T>C
ENST00000680425.1:c.183-1042T>C	ENSP00000506459.1:n.183-1042T>C
ENST00000680453.1:c.473-1042T>C
ENST00000680790.1:c.4577T>C	ENSP00000505335.1:p.Leu1526Ser
ENST00000681136.1:n.816T>C
ENST00000681696.1:c.515T>C	ENSP00000505871.1:p.Leu172Ser
ENST00000298910.11:c.4832T>C	ENSP00000298910.7:p.Leu1611Ser
ENST00000430804.5:c.2128T>C
ENST00000479187.5:n.1513T>C
ENST00000481256.1:n.491T>C
NM_198578.3:c.4832T>C	NP_940980.3:p.Leu1611Ser
XM_005268629.2:c.4832T>C	XP_005268686.1:p.Leu1611Ser
XM_011537877.1:c.4832T>C	XP_011536179.1:p.Leu1611Ser
XM_011537878.1:c.4832T>C	XP_011536180.1:p.Leu1611Ser
XM_011537879.1:c.3629T>C	XP_011536181.1:p.Leu1210Ser
XM_011537881.1:c.4828-1042T>C	XP_011536183.1:n.4828-1042T>C
XM_005268629.4:c.4832T>C	XP_005268686.1:p.Leu1611Ser
XM_011537877.3:c.4832T>C	XP_011536179.1:p.Leu1611Ser
XM_011537881.3:c.4828-1042T>C	XP_011536183.1:n.4828-1042T>C
XM_017018787.1:c.1748T>C	XP_016874276.1:p.Leu583Ser
XM_017018788.2:c.1094T>C	XP_016874277.1:p.Leu365Ser
XM_024448833.1:c.3629T>C	XP_024304601.1:p.Leu1210Ser
XR_001748574.2:n.5200T>C
NM_198578.4:c.4832T>C MANE Select	NP_940980.4:p.Leu1611Ser