Canonical Allele Identifier: CA384413172

Gene: LRRK2

Linked Data

• MyVariant Identifiers: chr12:g.40757230C>T (hg19) ; chr12:g.40363428C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40363428C>T , CM000674.2:g.40363428C>T	GRCh38
NC_000012.11:g.40757230C>T , CM000674.1:g.40757230C>T	GRCh37
NC_000012.10:g.39043497C>T	NCBI36
NG_011709.1:g.143418C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000298910.12:c.7055C>T MANE Select	ENSP00000298910.7:p.Ser2352Phe
ENST00000636518.1:c.852C>T
ENST00000679360.1:c.*5964C>T	ENSP00000505368.1:n.*5964C>T
ENST00000679532.1:c.2829C>T
ENST00000679683.1:c.845C>T
ENST00000680018.1:c.2500C>T	ENSP00000505347.1:n.2500C>T
ENST00000680422.1:c.4142C>T
ENST00000680425.1:c.2222C>T	ENSP00000506459.1:n.2222C>T
ENST00000680453.1:c.2512C>T
ENST00000680790.1:c.6800C>T	ENSP00000505335.1:p.Ser2267Phe
ENST00000681136.1:n.3039C>T
ENST00000681696.1:c.2738C>T	ENSP00000505871.1:p.Ser913Phe
ENST00000681773.1:n.262C>T
ENST00000298910.11:c.7055C>T	ENSP00000298910.7:p.Ser2352Phe
ENST00000430804.5:c.4351C>T
ENST00000479187.5:n.3736C>T
NM_198578.3:c.7055C>T	NP_940980.3:p.Ser2352Phe
XM_005268629.2:c.7055C>T	XP_005268686.1:p.Ser2352Phe
XM_011537877.1:c.7055C>T	XP_011536179.1:p.Ser2352Phe
XM_011537879.1:c.5852C>T	XP_011536181.1:p.Ser1951Phe
XR_944868.1:n.485-8601G>A
XM_005268629.4:c.7055C>T	XP_005268686.1:p.Ser2352Phe
XM_011537877.3:c.7055C>T	XP_011536179.1:p.Ser2352Phe
XM_017018787.1:c.3971C>T	XP_016874276.1:p.Ser1324Phe
XM_017018788.2:c.3317C>T	XP_016874277.1:p.Ser1106Phe
XM_024448833.1:c.5852C>T	XP_024304601.1:p.Ser1951Phe
XR_944868.2:n.485-8601G>A
NM_198578.4:c.7055C>T MANE Select	NP_940980.4:p.Ser2352Phe