Canonical Allele Identifier: CA6514842

Gene: LRRK2

Linked Data

• dbSNP Id: rs749525594
• ExAC: 12:40757234 C / T
• gnomAD v2: 12-40757234-C-T
• MyVariant Identifiers: chr12:g.40757234C>T (hg19) ; chr12:g.40363432C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40363432C>T , CM000674.2:g.40363432C>T	GRCh38
NC_000012.11:g.40757234C>T , CM000674.1:g.40757234C>T	GRCh37
NC_000012.10:g.39043501C>T	NCBI36
NG_011709.1:g.143422C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000298910.12:c.7059C>T MANE Select	ENSP00000298910.7:p.Asn2353=
ENST00000636518.1:c.856C>T
ENST00000679360.1:c.*5968C>T	ENSP00000505368.1:n.*5968C>T
ENST00000679532.1:c.2833C>T
ENST00000679683.1:c.849C>T
ENST00000680018.1:c.2504C>T	ENSP00000505347.1:n.2504C>T
ENST00000680422.1:c.4146C>T
ENST00000680425.1:c.2226C>T	ENSP00000506459.1:n.2226C>T
ENST00000680453.1:c.2516C>T
ENST00000680790.1:c.6804C>T	ENSP00000505335.1:p.Asn2268=
ENST00000681136.1:n.3043C>T
ENST00000681696.1:c.2742C>T	ENSP00000505871.1:p.Asn914=
ENST00000681773.1:n.266C>T
ENST00000298910.11:c.7059C>T	ENSP00000298910.7:p.Asn2353=
ENST00000430804.5:c.4355C>T
ENST00000479187.5:n.3740C>T
NM_198578.3:c.7059C>T	NP_940980.3:p.Asn2353=
XM_005268629.2:c.7059C>T	XP_005268686.1:p.Asn2353=
XM_011537877.1:c.7059C>T	XP_011536179.1:p.Asn2353=
XM_011537879.1:c.5856C>T	XP_011536181.1:p.Asn1952=
XR_944868.1:n.485-8605G>A
XM_005268629.4:c.7059C>T	XP_005268686.1:p.Asn2353=
XM_011537877.3:c.7059C>T	XP_011536179.1:p.Asn2353=
XM_017018787.1:c.3975C>T	XP_016874276.1:p.Asn1325=
XM_017018788.2:c.3321C>T	XP_016874277.1:p.Asn1107=
XM_024448833.1:c.5856C>T	XP_024304601.1:p.Asn1952=
XR_944868.2:n.485-8605G>A
NM_198578.4:c.7059C>T MANE Select	NP_940980.4:p.Asn2353=