Canonical Allele Identifier: CA384413446

Gene: LRRK2

Linked Data

• dbSNP Id: rs1422458261
• gnomAD v2: 12-40757302-G-C
• gnomAD v4: 12-40363500-G-C
• MyVariant Identifiers: chr12:g.40757302G>C (hg19) ; chr12:g.40363500G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40363500G>C , CM000674.2:g.40363500G>C	GRCh38
NC_000012.11:g.40757302G>C , CM000674.1:g.40757302G>C	GRCh37
NC_000012.10:g.39043569G>C	NCBI36
NG_011709.1:g.143490G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.7127G>C MANE Select	ENSP00000298910.7:p.Trp2376Ser
ENST00000636518.1:c.924G>C
ENST00000679360.1:c.*6036G>C	ENSP00000505368.1:n.*6036G>C
ENST00000679532.1:c.2901G>C
ENST00000679683.1:c.917G>C
ENST00000680018.1:c.2572G>C	ENSP00000505347.1:n.2572G>C
ENST00000680422.1:c.4214G>C
ENST00000680425.1:c.2294G>C	ENSP00000506459.1:n.2294G>C
ENST00000680453.1:c.2584G>C
ENST00000680790.1:c.6872G>C	ENSP00000505335.1:p.Trp2291Ser
ENST00000681136.1:n.3111G>C
ENST00000681696.1:c.2810G>C	ENSP00000505871.1:p.Trp937Ser
ENST00000681773.1:n.334G>C
ENST00000298910.11:c.7127G>C	ENSP00000298910.7:p.Trp2376Ser
ENST00000430804.5:c.4423G>C
ENST00000479187.5:n.3808G>C
NM_198578.3:c.7127G>C	NP_940980.3:p.Trp2376Ser
XM_005268629.2:c.7127G>C	XP_005268686.1:p.Trp2376Ser
XM_011537877.1:c.7127G>C	XP_011536179.1:p.Trp2376Ser
XM_011537879.1:c.5924G>C	XP_011536181.1:p.Trp1975Ser
XR_944868.1:n.485-8673C>G
XM_005268629.4:c.7127G>C	XP_005268686.1:p.Trp2376Ser
XM_011537877.3:c.7127G>C	XP_011536179.1:p.Trp2376Ser
XM_017018787.1:c.4043G>C	XP_016874276.1:p.Trp1348Ser
XM_017018788.2:c.3389G>C	XP_016874277.1:p.Trp1130Ser
XM_024448833.1:c.5924G>C	XP_024304601.1:p.Trp1975Ser
XR_944868.2:n.485-8673C>G
NM_198578.4:c.7127G>C MANE Select	NP_940980.4:p.Trp2376Ser