Canonical Allele Identifier: CA6514857

Gene: LRRK2

Linked Data

• dbSNP Id: rs780498854
• ExAC: 12:40757342 C / G
• gnomAD v2: 12-40757342-C-G
• gnomAD v4: 12-40363540-C-G
• MyVariant Identifiers: chr12:g.40757342C>G (hg19) ; chr12:g.40363540C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40363540C>G , CM000674.2:g.40363540C>G	GRCh38
NC_000012.11:g.40757342C>G , CM000674.1:g.40757342C>G	GRCh37
NC_000012.10:g.39043609C>G	NCBI36
NG_011709.1:g.143530C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000298910.12:c.7167C>G MANE Select	ENSP00000298910.7:p.Cys2389Trp
ENST00000636518.1:c.964C>G
ENST00000679360.1:c.*6076C>G	ENSP00000505368.1:n.*6076C>G
ENST00000679532.1:c.2941C>G
ENST00000679683.1:c.957C>G
ENST00000680018.1:c.2612C>G	ENSP00000505347.1:n.2612C>G
ENST00000680422.1:c.4254C>G
ENST00000680425.1:c.2334C>G	ENSP00000506459.1:n.2334C>G
ENST00000680453.1:c.2624C>G
ENST00000680790.1:c.6912C>G	ENSP00000505335.1:p.Cys2304Trp
ENST00000681136.1:n.3151C>G
ENST00000681696.1:c.2850C>G	ENSP00000505871.1:p.Cys950Trp
ENST00000681773.1:n.374C>G
ENST00000298910.11:c.7167C>G	ENSP00000298910.7:p.Cys2389Trp
ENST00000430804.5:c.4463C>G
ENST00000479187.5:n.3848C>G
NM_198578.3:c.7167C>G	NP_940980.3:p.Cys2389Trp
XM_005268629.2:c.7167C>G	XP_005268686.1:p.Cys2389Trp
XM_011537877.1:c.7167C>G	XP_011536179.1:p.Cys2389Trp
XM_011537879.1:c.5964C>G	XP_011536181.1:p.Cys1988Trp
XR_944868.1:n.485-8713G>C
XM_005268629.4:c.7167C>G	XP_005268686.1:p.Cys2389Trp
XM_011537877.3:c.7167C>G	XP_011536179.1:p.Cys2389Trp
XM_017018787.1:c.4083C>G	XP_016874276.1:p.Cys1361Trp
XM_017018788.2:c.3429C>G	XP_016874277.1:p.Cys1143Trp
XM_024448833.1:c.5964C>G	XP_024304601.1:p.Cys1988Trp
XR_944868.2:n.485-8713G>C
NM_198578.4:c.7167C>G MANE Select	NP_940980.4:p.Cys2389Trp