Canonical Allele Identifier: CA384407322

Gene: LRRK2

Linked Data

• MyVariant Identifiers: chr12:g.40745491C>T (hg19) ; chr12:g.40351689C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40351689C>T , CM000674.2:g.40351689C>T	GRCh38
NC_000012.11:g.40745491C>T , CM000674.1:g.40745491C>T	GRCh37
NC_000012.10:g.39031758C>T	NCBI36
NG_011709.1:g.131679C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.6532C>T MANE Select	ENSP00000298910.7:p.Gln2178Ter
ENST00000636518.1:c.329C>T
ENST00000679360.1:c.*5441C>T	ENSP00000505368.1:n.*5441C>T
ENST00000679532.1:c.2306C>T
ENST00000679683.1:c.322C>T
ENST00000680018.1:c.1977C>T	ENSP00000505347.1:n.1977C>T
ENST00000680422.1:c.2177C>T
ENST00000680425.1:c.1699C>T	ENSP00000506459.1:n.1699C>T
ENST00000680453.1:c.1989C>T
ENST00000680790.1:c.6277C>T	ENSP00000505335.1:p.Gln2093Ter
ENST00000681136.1:n.2516C>T
ENST00000681696.1:c.2215C>T	ENSP00000505871.1:p.Gln739Ter
ENST00000298910.11:c.6532C>T	ENSP00000298910.7:p.Gln2178Ter
ENST00000430804.5:c.3828C>T
ENST00000479187.5:n.3213C>T
NM_198578.3:c.6532C>T	NP_940980.3:p.Gln2178Ter
XM_005268629.2:c.6532C>T	XP_005268686.1:p.Gln2178Ter
XM_011537877.1:c.6532C>T	XP_011536179.1:p.Gln2178Ter
XM_011537878.1:c.6532C>T	XP_011536180.1:p.Gln2178Ter
XM_011537879.1:c.5329C>T	XP_011536181.1:p.Gln1777Ter
XM_005268629.4:c.6532C>T	XP_005268686.1:p.Gln2178Ter
XM_011537877.3:c.6532C>T	XP_011536179.1:p.Gln2178Ter
XM_017018787.1:c.3448C>T	XP_016874276.1:p.Gln1150Ter
XM_017018788.2:c.2794C>T	XP_016874277.1:p.Gln932Ter
XM_024448833.1:c.5329C>T	XP_024304601.1:p.Gln1777Ter
NM_198578.4:c.6532C>T MANE Select	NP_940980.4:p.Gln2178Ter