Canonical Allele Identifier: CA479247666

Gene: LRRK2

Linked Data

• gnomAD v4: 12-40363549-T-C
• MyVariant Identifiers: chr12:g.40757351T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40363549T>C , CM000674.2:g.40363549T>C	GRCh38
NC_000012.11:g.40757351T>C , CM000674.1:g.40757351T>C	GRCh37
NC_000012.10:g.39043618T>C	NCBI36
NG_011709.1:g.143539T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000298910.12:c.7176T>C MANE Select	ENSP00000298910.7:p.Phe2392=
ENST00000636518.1:c.973T>C
ENST00000679360.1:c.*6085T>C	ENSP00000505368.1:n.*6085T>C
ENST00000679532.1:c.2950T>C
ENST00000679683.1:c.966T>C
ENST00000680018.1:c.2621T>C	ENSP00000505347.1:n.2621T>C
ENST00000680422.1:c.4263T>C
ENST00000680425.1:c.2343T>C	ENSP00000506459.1:n.2343T>C
ENST00000680453.1:c.2633T>C
ENST00000680790.1:c.6921T>C	ENSP00000505335.1:p.Phe2307=
ENST00000681136.1:n.3160T>C
ENST00000681696.1:c.2859T>C	ENSP00000505871.1:p.Phe953=
ENST00000681773.1:n.383T>C
ENST00000298910.11:c.7176T>C	ENSP00000298910.7:p.Phe2392=
ENST00000430804.5:c.4472T>C
ENST00000479187.5:n.3857T>C
NM_198578.3:c.7176T>C	NP_940980.3:p.Phe2392=
XM_005268629.2:c.7176T>C	XP_005268686.1:p.Phe2392=
XM_011537877.1:c.7176T>C	XP_011536179.1:p.Phe2392=
XM_011537879.1:c.5973T>C	XP_011536181.1:p.Phe1991=
XR_944868.1:n.485-8722A>G
XM_005268629.4:c.7176T>C	XP_005268686.1:p.Phe2392=
XM_011537877.3:c.7176T>C	XP_011536179.1:p.Phe2392=
XM_017018787.1:c.4092T>C	XP_016874276.1:p.Phe1364=
XM_017018788.2:c.3438T>C	XP_016874277.1:p.Phe1146=
XM_024448833.1:c.5973T>C	XP_024304601.1:p.Phe1991=
XR_944868.2:n.485-8722A>G
NM_198578.4:c.7176T>C MANE Select	NP_940980.4:p.Phe2392=