Canonical Allele Identifier: CA384419815

Gene: LRRK2

Linked Data

• MyVariant Identifiers: chr12:g.40714840T>G (hg19) ; chr12:g.40321038T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40321038T>G , CM000674.2:g.40321038T>G	GRCh38
NC_000012.11:g.40714840T>G , CM000674.1:g.40714840T>G	GRCh37
NC_000012.10:g.39001107T>G	NCBI36
NG_011709.1:g.101028T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000298910.12:c.5020T>G MANE Select	ENSP00000298910.7:p.Ser1674Ala
ENST00000679360.1:c.*3929T>G	ENSP00000505368.1:n.*3929T>G
ENST00000679532.1:c.794T>G
ENST00000680018.1:c.465T>G	ENSP00000505347.1:n.465T>G
ENST00000680422.1:c.665T>G
ENST00000680425.1:c.187T>G	ENSP00000506459.1:n.187T>G
ENST00000680453.1:c.477T>G
ENST00000680790.1:c.4765T>G	ENSP00000505335.1:p.Ser1589Ala
ENST00000681136.1:n.1004T>G
ENST00000681696.1:c.703T>G	ENSP00000505871.1:p.Ser235Ala
ENST00000298910.11:c.5020T>G	ENSP00000298910.7:p.Ser1674Ala
ENST00000430804.5:c.2316T>G
ENST00000479187.5:n.1701T>G
NM_198578.3:c.5020T>G	NP_940980.3:p.Ser1674Ala
XM_005268629.2:c.5020T>G	XP_005268686.1:p.Ser1674Ala
XM_011537877.1:c.5020T>G	XP_011536179.1:p.Ser1674Ala
XM_011537878.1:c.5020T>G	XP_011536180.1:p.Ser1674Ala
XM_011537879.1:c.3817T>G	XP_011536181.1:p.Ser1273Ala
XM_011537881.1:c.4832T>G	XP_011536183.1:p.Val1611Gly
XM_005268629.4:c.5020T>G	XP_005268686.1:p.Ser1674Ala
XM_011537877.3:c.5020T>G	XP_011536179.1:p.Ser1674Ala
XM_011537881.3:c.4832T>G	XP_011536183.1:p.Val1611Gly
XM_017018787.1:c.1936T>G	XP_016874276.1:p.Ser646Ala
XM_017018788.2:c.1282T>G	XP_016874277.1:p.Ser428Ala
XM_024448833.1:c.3817T>G	XP_024304601.1:p.Ser1273Ala
XR_001748574.2:n.5388T>G
NM_198578.4:c.5020T>G MANE Select	NP_940980.4:p.Ser1674Ala