Canonical Allele Identifier: CA384413639

Gene: LRRK2

Linked Data

• MyVariant Identifiers: chr12:g.40757353T>C (hg19) ; chr12:g.40363551T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40363551T>C , CM000674.2:g.40363551T>C	GRCh38
NC_000012.11:g.40757353T>C , CM000674.1:g.40757353T>C	GRCh37
NC_000012.10:g.39043620T>C	NCBI36
NG_011709.1:g.143541T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000298910.12:c.7178T>C MANE Select	ENSP00000298910.7:p.Leu2393Ser
ENST00000636518.1:c.975T>C
ENST00000679360.1:c.*6087T>C	ENSP00000505368.1:n.*6087T>C
ENST00000679532.1:c.2952T>C
ENST00000679683.1:c.968T>C
ENST00000680018.1:c.2623T>C	ENSP00000505347.1:n.2623T>C
ENST00000680422.1:c.4265T>C
ENST00000680425.1:c.2345T>C	ENSP00000506459.1:n.2345T>C
ENST00000680453.1:c.2635T>C
ENST00000680790.1:c.6923T>C	ENSP00000505335.1:p.Leu2308Ser
ENST00000681136.1:n.3162T>C
ENST00000681696.1:c.2861T>C	ENSP00000505871.1:p.Leu954Ser
ENST00000681773.1:n.385T>C
ENST00000298910.11:c.7178T>C	ENSP00000298910.7:p.Leu2393Ser
ENST00000430804.5:c.4474T>C
ENST00000479187.5:n.3859T>C
NM_198578.3:c.7178T>C	NP_940980.3:p.Leu2393Ser
XM_005268629.2:c.7178T>C	XP_005268686.1:p.Leu2393Ser
XM_011537877.1:c.7178T>C	XP_011536179.1:p.Leu2393Ser
XM_011537879.1:c.5975T>C	XP_011536181.1:p.Leu1992Ser
XR_944868.1:n.485-8724A>G
XM_005268629.4:c.7178T>C	XP_005268686.1:p.Leu2393Ser
XM_011537877.3:c.7178T>C	XP_011536179.1:p.Leu2393Ser
XM_017018787.1:c.4094T>C	XP_016874276.1:p.Leu1365Ser
XM_017018788.2:c.3440T>C	XP_016874277.1:p.Leu1147Ser
XM_024448833.1:c.5975T>C	XP_024304601.1:p.Leu1992Ser
XR_944868.2:n.485-8724A>G
NM_198578.4:c.7178T>C MANE Select	NP_940980.4:p.Leu2393Ser