Canonical Allele Identifier: CA384419625

Gene: LRRK2

Linked Data

• gnomAD v4: 12-40320099-T-C
• MyVariant Identifiers: chr12:g.40713901T>C (hg19) ; chr12:g.40320099T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40320099T>C , CM000674.2:g.40320099T>C	GRCh38
NC_000012.11:g.40713901T>C , CM000674.1:g.40713901T>C	GRCh37
NC_000012.10:g.39000168T>C	NCBI36
NG_011709.1:g.100089T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.4939T>C MANE Select	ENSP00000298910.7:p.Ser1647Pro
ENST00000679360.1:c.*3848T>C	ENSP00000505368.1:n.*3848T>C
ENST00000679532.1:c.713T>C
ENST00000680018.1:c.384T>C	ENSP00000505347.1:n.384T>C
ENST00000680422.1:c.584T>C
ENST00000680425.1:c.183-935T>C	ENSP00000506459.1:n.183-935T>C
ENST00000680453.1:c.473-935T>C
ENST00000680790.1:c.4684T>C	ENSP00000505335.1:p.Ser1562Pro
ENST00000681136.1:n.923T>C
ENST00000681696.1:c.622T>C	ENSP00000505871.1:p.Ser208Pro
ENST00000298910.11:c.4939T>C	ENSP00000298910.7:p.Ser1647Pro
ENST00000430804.5:c.2235T>C
ENST00000479187.5:n.1620T>C
NM_198578.3:c.4939T>C	NP_940980.3:p.Ser1647Pro
XM_005268629.2:c.4939T>C	XP_005268686.1:p.Ser1647Pro
XM_011537877.1:c.4939T>C	XP_011536179.1:p.Ser1647Pro
XM_011537878.1:c.4939T>C	XP_011536180.1:p.Ser1647Pro
XM_011537879.1:c.3736T>C	XP_011536181.1:p.Ser1246Pro
XM_011537881.1:c.4828-935T>C	XP_011536183.1:n.4828-935T>C
XM_005268629.4:c.4939T>C	XP_005268686.1:p.Ser1647Pro
XM_011537877.3:c.4939T>C	XP_011536179.1:p.Ser1647Pro
XM_011537881.3:c.4828-935T>C	XP_011536183.1:n.4828-935T>C
XM_017018787.1:c.1855T>C	XP_016874276.1:p.Ser619Pro
XM_017018788.2:c.1201T>C	XP_016874277.1:p.Ser401Pro
XM_024448833.1:c.3736T>C	XP_024304601.1:p.Ser1246Pro
XR_001748574.2:n.5307T>C
NM_198578.4:c.4939T>C MANE Select	NP_940980.4:p.Ser1647Pro