Canonical Allele Identifier: CA384403471

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 1750688
• ClinVar RCV Id: RCV002355992
• MyVariant Identifiers: chr12:g.40734098A>C (hg19) ; chr12:g.40340296A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40340296A>C , CM000674.2:g.40340296A>C	GRCh38
NC_000012.11:g.40734098A>C , CM000674.1:g.40734098A>C	GRCh37
NC_000012.10:g.39020365A>C	NCBI36
NG_011709.1:g.120286A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.5951A>C MANE Select	ENSP00000298910.7:p.Tyr1984Ser
ENST00000679360.1:c.*4860A>C	ENSP00000505368.1:n.*4860A>C
ENST00000679532.1:c.1725A>C
ENST00000680018.1:c.1396A>C	ENSP00000505347.1:n.1396A>C
ENST00000680422.1:c.1596A>C
ENST00000680425.1:c.1118A>C	ENSP00000506459.1:n.1118A>C
ENST00000680453.1:c.1408A>C
ENST00000680790.1:c.5696A>C	ENSP00000505335.1:p.Tyr1899Ser
ENST00000681136.1:n.1935A>C
ENST00000681696.1:c.1634A>C	ENSP00000505871.1:p.Tyr545Ser
ENST00000298910.11:c.5951A>C	ENSP00000298910.7:p.Tyr1984Ser
ENST00000430804.5:c.3247A>C
ENST00000479187.5:n.2632A>C
NM_198578.3:c.5951A>C	NP_940980.3:p.Tyr1984Ser
XM_005268629.2:c.5951A>C	XP_005268686.1:p.Tyr1984Ser
XM_011537877.1:c.5951A>C	XP_011536179.1:p.Tyr1984Ser
XM_011537878.1:c.5951A>C	XP_011536180.1:p.Tyr1984Ser
XM_011537879.1:c.4748A>C	XP_011536181.1:p.Tyr1583Ser
XM_005268629.4:c.5951A>C	XP_005268686.1:p.Tyr1984Ser
XM_011537877.3:c.5951A>C	XP_011536179.1:p.Tyr1984Ser
XM_017018787.1:c.2867A>C	XP_016874276.1:p.Tyr956Ser
XM_017018788.2:c.2213A>C	XP_016874277.1:p.Tyr738Ser
XM_024448833.1:c.4748A>C	XP_024304601.1:p.Tyr1583Ser
NM_198578.4:c.5951A>C MANE Select	NP_940980.4:p.Tyr1984Ser