Canonical Allele Identifier: CA384403650

Gene: LRRK2

Linked Data

• MyVariant Identifiers: chr12:g.40734137C>T (hg19) ; chr12:g.40340335C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40340335C>T , CM000674.2:g.40340335C>T	GRCh38
NC_000012.11:g.40734137C>T , CM000674.1:g.40734137C>T	GRCh37
NC_000012.10:g.39020404C>T	NCBI36
NG_011709.1:g.120325C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.5990C>T MANE Select	ENSP00000298910.7:p.Pro1997Leu
ENST00000679360.1:c.*4899C>T	ENSP00000505368.1:n.*4899C>T
ENST00000679532.1:c.1764C>T
ENST00000680018.1:c.1435C>T	ENSP00000505347.1:n.1435C>T
ENST00000680422.1:c.1635C>T
ENST00000680425.1:c.1157C>T	ENSP00000506459.1:n.1157C>T
ENST00000680453.1:c.1447C>T
ENST00000680790.1:c.5735C>T	ENSP00000505335.1:p.Pro1912Leu
ENST00000681136.1:n.1974C>T
ENST00000681696.1:c.1673C>T	ENSP00000505871.1:p.Pro558Leu
ENST00000298910.11:c.5990C>T	ENSP00000298910.7:p.Pro1997Leu
ENST00000430804.5:c.3286C>T
ENST00000479187.5:n.2671C>T
NM_198578.3:c.5990C>T	NP_940980.3:p.Pro1997Leu
XM_005268629.2:c.5990C>T	XP_005268686.1:p.Pro1997Leu
XM_011537877.1:c.5990C>T	XP_011536179.1:p.Pro1997Leu
XM_011537878.1:c.5990C>T	XP_011536180.1:p.Pro1997Leu
XM_011537879.1:c.4787C>T	XP_011536181.1:p.Pro1596Leu
XM_005268629.4:c.5990C>T	XP_005268686.1:p.Pro1997Leu
XM_011537877.3:c.5990C>T	XP_011536179.1:p.Pro1997Leu
XM_017018787.1:c.2906C>T	XP_016874276.1:p.Pro969Leu
XM_017018788.2:c.2252C>T	XP_016874277.1:p.Pro751Leu
XM_024448833.1:c.4787C>T	XP_024304601.1:p.Pro1596Leu
NM_198578.4:c.5990C>T MANE Select	NP_940980.4:p.Pro1997Leu