Canonical Allele Identifier: CA384406723

Gene: LRRK2

Linked Data

• MyVariant Identifiers: chr12:g.40745408T>G (hg19) ; chr12:g.40351606T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40351606T>G , CM000674.2:g.40351606T>G	GRCh38
NC_000012.11:g.40745408T>G , CM000674.1:g.40745408T>G	GRCh37
NC_000012.10:g.39031675T>G	NCBI36
NG_011709.1:g.131596T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.6449T>G MANE Select	ENSP00000298910.7:p.Val2150Gly
ENST00000636518.1:c.246T>G
ENST00000679360.1:c.*5358T>G	ENSP00000505368.1:n.*5358T>G
ENST00000679532.1:c.2223T>G
ENST00000679683.1:c.239T>G
ENST00000680018.1:c.1894T>G	ENSP00000505347.1:n.1894T>G
ENST00000680422.1:c.2094T>G
ENST00000680425.1:c.1616T>G	ENSP00000506459.1:n.1616T>G
ENST00000680453.1:c.1906T>G
ENST00000680790.1:c.6194T>G	ENSP00000505335.1:p.Val2065Gly
ENST00000681136.1:n.2433T>G
ENST00000681696.1:c.2132T>G	ENSP00000505871.1:p.Val711Gly
ENST00000298910.11:c.6449T>G	ENSP00000298910.7:p.Val2150Gly
ENST00000430804.5:c.3745T>G
ENST00000479187.5:n.3130T>G
NM_198578.3:c.6449T>G	NP_940980.3:p.Val2150Gly
XM_005268629.2:c.6449T>G	XP_005268686.1:p.Val2150Gly
XM_011537877.1:c.6449T>G	XP_011536179.1:p.Val2150Gly
XM_011537878.1:c.6449T>G	XP_011536180.1:p.Val2150Gly
XM_011537879.1:c.5246T>G	XP_011536181.1:p.Val1749Gly
XM_005268629.4:c.6449T>G	XP_005268686.1:p.Val2150Gly
XM_011537877.3:c.6449T>G	XP_011536179.1:p.Val2150Gly
XM_017018787.1:c.3365T>G	XP_016874276.1:p.Val1122Gly
XM_017018788.2:c.2711T>G	XP_016874277.1:p.Val904Gly
XM_024448833.1:c.5246T>G	XP_024304601.1:p.Val1749Gly
NM_198578.4:c.6449T>G MANE Select	NP_940980.4:p.Val2150Gly