Canonical Allele Identifier: CA6514587

Gene: LRRK2

Linked Data

• dbSNP Id: rs755227721
• ExAC: 12:40734097 T / C
• gnomAD v2: 12-40734097-T-C
• gnomAD v4: 12-40340295-T-C
• MyVariant Identifiers: chr12:g.40734097T>C (hg19) ; chr12:g.40340295T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40340295T>C , CM000674.2:g.40340295T>C	GRCh38
NC_000012.11:g.40734097T>C , CM000674.1:g.40734097T>C	GRCh37
NC_000012.10:g.39020364T>C	NCBI36
NG_011709.1:g.120285T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.5950T>C MANE Select	ENSP00000298910.7:p.Tyr1984His
ENST00000679360.1:c.*4859T>C	ENSP00000505368.1:n.*4859T>C
ENST00000679532.1:c.1724T>C
ENST00000680018.1:c.1395T>C	ENSP00000505347.1:n.1395T>C
ENST00000680422.1:c.1595T>C
ENST00000680425.1:c.1117T>C	ENSP00000506459.1:n.1117T>C
ENST00000680453.1:c.1407T>C
ENST00000680790.1:c.5695T>C	ENSP00000505335.1:p.Tyr1899His
ENST00000681136.1:n.1934T>C
ENST00000681696.1:c.1633T>C	ENSP00000505871.1:p.Tyr545His
ENST00000298910.11:c.5950T>C	ENSP00000298910.7:p.Tyr1984His
ENST00000430804.5:c.3246T>C
ENST00000479187.5:n.2631T>C
NM_198578.3:c.5950T>C	NP_940980.3:p.Tyr1984His
XM_005268629.2:c.5950T>C	XP_005268686.1:p.Tyr1984His
XM_011537877.1:c.5950T>C	XP_011536179.1:p.Tyr1984His
XM_011537878.1:c.5950T>C	XP_011536180.1:p.Tyr1984His
XM_011537879.1:c.4747T>C	XP_011536181.1:p.Tyr1583His
XM_005268629.4:c.5950T>C	XP_005268686.1:p.Tyr1984His
XM_011537877.3:c.5950T>C	XP_011536179.1:p.Tyr1984His
XM_017018787.1:c.2866T>C	XP_016874276.1:p.Tyr956His
XM_017018788.2:c.2212T>C	XP_016874277.1:p.Tyr738His
XM_024448833.1:c.4747T>C	XP_024304601.1:p.Tyr1583His
NM_198578.4:c.5950T>C MANE Select	NP_940980.4:p.Tyr1984His