Canonical Allele Identifier: CA384406515

Gene: LRRK2

Linked Data

• MyVariant Identifiers: chr12:g.40745359T>C (hg19) ; chr12:g.40351557T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40351557T>C , CM000674.2:g.40351557T>C	GRCh38
NC_000012.11:g.40745359T>C , CM000674.1:g.40745359T>C	GRCh37
NC_000012.10:g.39031626T>C	NCBI36
NG_011709.1:g.131547T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.6400T>C MANE Select	ENSP00000298910.7:p.Ser2134Pro
ENST00000636518.1:c.197T>C
ENST00000679360.1:c.*5309T>C	ENSP00000505368.1:n.*5309T>C
ENST00000679532.1:c.2174T>C
ENST00000679683.1:c.190T>C
ENST00000680018.1:c.1845T>C	ENSP00000505347.1:n.1845T>C
ENST00000680422.1:c.2045T>C
ENST00000680425.1:c.1567T>C	ENSP00000506459.1:n.1567T>C
ENST00000680453.1:c.1857T>C
ENST00000680790.1:c.6145T>C	ENSP00000505335.1:p.Ser2049Pro
ENST00000681136.1:n.2384T>C
ENST00000681696.1:c.2083T>C	ENSP00000505871.1:p.Ser695Pro
ENST00000298910.11:c.6400T>C	ENSP00000298910.7:p.Ser2134Pro
ENST00000430804.5:c.3696T>C
ENST00000479187.5:n.3081T>C
NM_198578.3:c.6400T>C	NP_940980.3:p.Ser2134Pro
XM_005268629.2:c.6400T>C	XP_005268686.1:p.Ser2134Pro
XM_011537877.1:c.6400T>C	XP_011536179.1:p.Ser2134Pro
XM_011537878.1:c.6400T>C	XP_011536180.1:p.Ser2134Pro
XM_011537879.1:c.5197T>C	XP_011536181.1:p.Ser1733Pro
XM_005268629.4:c.6400T>C	XP_005268686.1:p.Ser2134Pro
XM_011537877.3:c.6400T>C	XP_011536179.1:p.Ser2134Pro
XM_017018787.1:c.3316T>C	XP_016874276.1:p.Ser1106Pro
XM_017018788.2:c.2662T>C	XP_016874277.1:p.Ser888Pro
XM_024448833.1:c.5197T>C	XP_024304601.1:p.Ser1733Pro
NM_198578.4:c.6400T>C MANE Select	NP_940980.4:p.Ser2134Pro