Canonical Allele Identifier: CA384404202

Gene: LRRK2

Linked Data

• gnomAD v4: 12-40340451-C-T
• MyVariant Identifiers: chr12:g.40734253C>T (hg19) ; chr12:g.40340451C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40340451C>T , CM000674.2:g.40340451C>T	GRCh38
NC_000012.11:g.40734253C>T , CM000674.1:g.40734253C>T	GRCh37
NC_000012.10:g.39020520C>T	NCBI36
NG_011709.1:g.120441C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.6106C>T MANE Select	ENSP00000298910.7:p.Pro2036Ser
ENST00000679360.1:c.*5015C>T	ENSP00000505368.1:n.*5015C>T
ENST00000679532.1:c.1880C>T
ENST00000680018.1:c.1551C>T	ENSP00000505347.1:n.1551C>T
ENST00000680422.1:c.1751C>T
ENST00000680425.1:c.1273C>T	ENSP00000506459.1:n.1273C>T
ENST00000680453.1:c.1563C>T
ENST00000680790.1:c.5851C>T	ENSP00000505335.1:p.Pro1951Ser
ENST00000681136.1:n.2090C>T
ENST00000681696.1:c.1789C>T	ENSP00000505871.1:p.Pro597Ser
ENST00000298910.11:c.6106C>T	ENSP00000298910.7:p.Pro2036Ser
ENST00000430804.5:c.3402C>T
ENST00000479187.5:n.2787C>T
NM_198578.3:c.6106C>T	NP_940980.3:p.Pro2036Ser
XM_005268629.2:c.6106C>T	XP_005268686.1:p.Pro2036Ser
XM_011537877.1:c.6106C>T	XP_011536179.1:p.Pro2036Ser
XM_011537878.1:c.6106C>T	XP_011536180.1:p.Pro2036Ser
XM_011537879.1:c.4903C>T	XP_011536181.1:p.Pro1635Ser
XM_005268629.4:c.6106C>T	XP_005268686.1:p.Pro2036Ser
XM_011537877.3:c.6106C>T	XP_011536179.1:p.Pro2036Ser
XM_017018787.1:c.3022C>T	XP_016874276.1:p.Pro1008Ser
XM_017018788.2:c.2368C>T	XP_016874277.1:p.Pro790Ser
XM_024448833.1:c.4903C>T	XP_024304601.1:p.Pro1635Ser
NM_198578.4:c.6106C>T MANE Select	NP_940980.4:p.Pro2036Ser