Canonical Allele Identifier: CA384407349

Gene: LRRK2

Linked Data

• MyVariant Identifiers: chr12:g.40745492A>T (hg19) ; chr12:g.40351690A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40351690A>T , CM000674.2:g.40351690A>T	GRCh38
NC_000012.11:g.40745492A>T , CM000674.1:g.40745492A>T	GRCh37
NC_000012.10:g.39031759A>T	NCBI36
NG_011709.1:g.131680A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.6533A>T MANE Select	ENSP00000298910.7:p.Gln2178Leu
ENST00000636518.1:c.330A>T
ENST00000679360.1:c.*5442A>T	ENSP00000505368.1:n.*5442A>T
ENST00000679532.1:c.2307A>T
ENST00000679683.1:c.323A>T
ENST00000680018.1:c.1978A>T	ENSP00000505347.1:n.1978A>T
ENST00000680422.1:c.2178A>T
ENST00000680425.1:c.1700A>T	ENSP00000506459.1:n.1700A>T
ENST00000680453.1:c.1990A>T
ENST00000680790.1:c.6278A>T	ENSP00000505335.1:p.Gln2093Leu
ENST00000681136.1:n.2517A>T
ENST00000681696.1:c.2216A>T	ENSP00000505871.1:p.Gln739Leu
ENST00000298910.11:c.6533A>T	ENSP00000298910.7:p.Gln2178Leu
ENST00000430804.5:c.3829A>T
ENST00000479187.5:n.3214A>T
NM_198578.3:c.6533A>T	NP_940980.3:p.Gln2178Leu
XM_005268629.2:c.6533A>T	XP_005268686.1:p.Gln2178Leu
XM_011537877.1:c.6533A>T	XP_011536179.1:p.Gln2178Leu
XM_011537878.1:c.6533A>T	XP_011536180.1:p.Gln2178Leu
XM_011537879.1:c.5330A>T	XP_011536181.1:p.Gln1777Leu
XM_005268629.4:c.6533A>T	XP_005268686.1:p.Gln2178Leu
XM_011537877.3:c.6533A>T	XP_011536179.1:p.Gln2178Leu
XM_017018787.1:c.3449A>T	XP_016874276.1:p.Gln1150Leu
XM_017018788.2:c.2795A>T	XP_016874277.1:p.Gln932Leu
XM_024448833.1:c.5330A>T	XP_024304601.1:p.Gln1777Leu
NM_198578.4:c.6533A>T MANE Select	NP_940980.4:p.Gln2178Leu