Canonical Allele Identifier: CA384406601

Gene: LRRK2

Linked Data

• gnomAD v4: 12-40351578-A-T
• MyVariant Identifiers: chr12:g.40745380A>T (hg19) ; chr12:g.40351578A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40351578A>T , CM000674.2:g.40351578A>T	GRCh38
NC_000012.11:g.40745380A>T , CM000674.1:g.40745380A>T	GRCh37
NC_000012.10:g.39031647A>T	NCBI36
NG_011709.1:g.131568A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.6421A>T MANE Select	ENSP00000298910.7:p.Thr2141Ser
ENST00000636518.1:c.218A>T
ENST00000679360.1:c.*5330A>T	ENSP00000505368.1:n.*5330A>T
ENST00000679532.1:c.2195A>T
ENST00000679683.1:c.211A>T
ENST00000680018.1:c.1866A>T	ENSP00000505347.1:n.1866A>T
ENST00000680422.1:c.2066A>T
ENST00000680425.1:c.1588A>T	ENSP00000506459.1:n.1588A>T
ENST00000680453.1:c.1878A>T
ENST00000680790.1:c.6166A>T	ENSP00000505335.1:p.Thr2056Ser
ENST00000681136.1:n.2405A>T
ENST00000681696.1:c.2104A>T	ENSP00000505871.1:p.Thr702Ser
ENST00000298910.11:c.6421A>T	ENSP00000298910.7:p.Thr2141Ser
ENST00000430804.5:c.3717A>T
ENST00000479187.5:n.3102A>T
NM_198578.3:c.6421A>T	NP_940980.3:p.Thr2141Ser
XM_005268629.2:c.6421A>T	XP_005268686.1:p.Thr2141Ser
XM_011537877.1:c.6421A>T	XP_011536179.1:p.Thr2141Ser
XM_011537878.1:c.6421A>T	XP_011536180.1:p.Thr2141Ser
XM_011537879.1:c.5218A>T	XP_011536181.1:p.Thr1740Ser
XM_005268629.4:c.6421A>T	XP_005268686.1:p.Thr2141Ser
XM_011537877.3:c.6421A>T	XP_011536179.1:p.Thr2141Ser
XM_017018787.1:c.3337A>T	XP_016874276.1:p.Thr1113Ser
XM_017018788.2:c.2683A>T	XP_016874277.1:p.Thr895Ser
XM_024448833.1:c.5218A>T	XP_024304601.1:p.Thr1740Ser
NM_198578.4:c.6421A>T MANE Select	NP_940980.4:p.Thr2141Ser