Canonical Allele Identifier: CA6514854

Gene: LRRK2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40363533T>C , CM000674.2:g.40363533T>C	GRCh38
NC_000012.11:g.40757335T>C , CM000674.1:g.40757335T>C	GRCh37
NC_000012.10:g.39043602T>C	NCBI36
NG_011709.1:g.143523T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.7160T>C MANE Select	ENSP00000298910.7:p.Ile2387Thr
ENST00000636518.1:c.957T>C
ENST00000679360.1:c.*6069T>C	ENSP00000505368.1:n.*6069T>C
ENST00000679532.1:c.2934T>C
ENST00000679683.1:c.950T>C
ENST00000680018.1:c.2605T>C	ENSP00000505347.1:n.2605T>C
ENST00000680422.1:c.4247T>C
ENST00000680425.1:c.2327T>C	ENSP00000506459.1:n.2327T>C
ENST00000680453.1:c.2617T>C
ENST00000680790.1:c.6905T>C	ENSP00000505335.1:p.Ile2302Thr
ENST00000681136.1:n.3144T>C
ENST00000681696.1:c.2843T>C	ENSP00000505871.1:p.Ile948Thr
ENST00000681773.1:n.367T>C
ENST00000298910.11:c.7160T>C	ENSP00000298910.7:p.Ile2387Thr
ENST00000430804.5:c.4456T>C
ENST00000479187.5:n.3841T>C
NM_198578.3:c.7160T>C	NP_940980.3:p.Ile2387Thr
XM_005268629.2:c.7160T>C	XP_005268686.1:p.Ile2387Thr
XM_011537877.1:c.7160T>C	XP_011536179.1:p.Ile2387Thr
XM_011537879.1:c.5957T>C	XP_011536181.1:p.Ile1986Thr
XR_944868.1:n.485-8706A>G
XM_005268629.4:c.7160T>C	XP_005268686.1:p.Ile2387Thr
XM_011537877.3:c.7160T>C	XP_011536179.1:p.Ile2387Thr
XM_017018787.1:c.4076T>C	XP_016874276.1:p.Ile1359Thr
XM_017018788.2:c.3422T>C	XP_016874277.1:p.Ile1141Thr
XM_024448833.1:c.5957T>C	XP_024304601.1:p.Ile1986Thr
XR_944868.2:n.485-8706A>G
NM_198578.4:c.7160T>C MANE Select	NP_940980.4:p.Ile2387Thr