Canonical Allele Identifier: CA6514327

Gene: LRRK2

Linked Data

• dbSNP Id: rs551217200
• ExAC: 12:40713907 T / C
• gnomAD v2: 12-40713907-T-C
• gnomAD v3: 12-40320105-T-C
• gnomAD v4: 12-40320105-T-C
• MyVariant Identifiers: chr12:g.40713907T>C (hg19) ; chr12:g.40320105T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40320105T>C , CM000674.2:g.40320105T>C	GRCh38
NC_000012.11:g.40713907T>C , CM000674.1:g.40713907T>C	GRCh37
NC_000012.10:g.39000174T>C	NCBI36
NG_011709.1:g.100095T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.4945T>C MANE Select	ENSP00000298910.7:p.Tyr1649His
ENST00000679360.1:c.*3854T>C	ENSP00000505368.1:n.*3854T>C
ENST00000679532.1:c.719T>C
ENST00000680018.1:c.390T>C	ENSP00000505347.1:n.390T>C
ENST00000680422.1:c.590T>C
ENST00000680425.1:c.183-929T>C	ENSP00000506459.1:n.183-929T>C
ENST00000680453.1:c.473-929T>C
ENST00000680790.1:c.4690T>C	ENSP00000505335.1:p.Tyr1564His
ENST00000681136.1:n.929T>C
ENST00000681696.1:c.628T>C	ENSP00000505871.1:p.Tyr210His
ENST00000298910.11:c.4945T>C	ENSP00000298910.7:p.Tyr1649His
ENST00000430804.5:c.2241T>C
ENST00000479187.5:n.1626T>C
NM_198578.3:c.4945T>C	NP_940980.3:p.Tyr1649His
XM_005268629.2:c.4945T>C	XP_005268686.1:p.Tyr1649His
XM_011537877.1:c.4945T>C	XP_011536179.1:p.Tyr1649His
XM_011537878.1:c.4945T>C	XP_011536180.1:p.Tyr1649His
XM_011537879.1:c.3742T>C	XP_011536181.1:p.Tyr1248His
XM_011537881.1:c.4828-929T>C	XP_011536183.1:n.4828-929T>C
XM_005268629.4:c.4945T>C	XP_005268686.1:p.Tyr1649His
XM_011537877.3:c.4945T>C	XP_011536179.1:p.Tyr1649His
XM_011537881.3:c.4828-929T>C	XP_011536183.1:n.4828-929T>C
XM_017018787.1:c.1861T>C	XP_016874276.1:p.Tyr621His
XM_017018788.2:c.1207T>C	XP_016874277.1:p.Tyr403His
XM_024448833.1:c.3742T>C	XP_024304601.1:p.Tyr1248His
XR_001748574.2:n.5313T>C
NM_198578.4:c.4945T>C MANE Select	NP_940980.4:p.Tyr1649His