Canonical Allele Identifier: CA479238436

Gene: LRRK2

Linked Data

• gnomAD v4: 12-40340321-C-T
• MyVariant Identifiers: chr12:g.40734123C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40340321C>T , CM000674.2:g.40340321C>T	GRCh38
NC_000012.11:g.40734123C>T , CM000674.1:g.40734123C>T	GRCh37
NC_000012.10:g.39020390C>T	NCBI36
NG_011709.1:g.120311C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000298910.12:c.5976C>T MANE Select	ENSP00000298910.7:p.Tyr1992=
ENST00000679360.1:c.*4885C>T	ENSP00000505368.1:n.*4885C>T
ENST00000679532.1:c.1750C>T
ENST00000680018.1:c.1421C>T	ENSP00000505347.1:n.1421C>T
ENST00000680422.1:c.1621C>T
ENST00000680425.1:c.1143C>T	ENSP00000506459.1:n.1143C>T
ENST00000680453.1:c.1433C>T
ENST00000680790.1:c.5721C>T	ENSP00000505335.1:p.Tyr1907=
ENST00000681136.1:n.1960C>T
ENST00000681696.1:c.1659C>T	ENSP00000505871.1:p.Tyr553=
ENST00000298910.11:c.5976C>T	ENSP00000298910.7:p.Tyr1992=
ENST00000430804.5:c.3272C>T
ENST00000479187.5:n.2657C>T
NM_198578.3:c.5976C>T	NP_940980.3:p.Tyr1992=
XM_005268629.2:c.5976C>T	XP_005268686.1:p.Tyr1992=
XM_011537877.1:c.5976C>T	XP_011536179.1:p.Tyr1992=
XM_011537878.1:c.5976C>T	XP_011536180.1:p.Tyr1992=
XM_011537879.1:c.4773C>T	XP_011536181.1:p.Tyr1591=
XM_005268629.4:c.5976C>T	XP_005268686.1:p.Tyr1992=
XM_011537877.3:c.5976C>T	XP_011536179.1:p.Tyr1992=
XM_017018787.1:c.2892C>T	XP_016874276.1:p.Tyr964=
XM_017018788.2:c.2238C>T	XP_016874277.1:p.Tyr746=
XM_024448833.1:c.4773C>T	XP_024304601.1:p.Tyr1591=
NM_198578.4:c.5976C>T MANE Select	NP_940980.4:p.Tyr1992=