Canonical Allele Identifier: CA378641607
Community Standard Title: NM_022126.4(LHPP):c.499C>G (p.Leu167Val)
Gene: LHPP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.124496992C>G , CM000672.2:g.124496992C>G GRCh38
NC_000010.10:g.126185561C>G , CM000672.1:g.126185561C>G GRCh37
NC_000010.9:g.126175551C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_022126.4:c.499C>G MANE Select NP_071409.3:p.Leu167Val
ENST00000368842.10:c.499C>G MANE Select ENSP00000357835.5:p.Leu167Val
NM_001167880.1:c.499C>G NP_001161352.1:p.Leu167Val
NM_001167880.2:c.499C>G NP_001161352.1:p.Leu167Val
NM_001318331.1:c.467+8417C>G NP_001305260.1:n.467+8417C>G
NM_001318331.2:c.467+8417C>G NP_001305260.1:n.467+8417C>G
NM_001318332.1:c.499C>G NP_001305261.1:p.Leu167Val
NM_001318332.2:c.499C>G NP_001305261.1:p.Leu167Val
NM_022126.3:c.499C>G NP_071409.3:p.Leu167Val
ENST00000368839.1:c.499C>G ENSP00000357832.1:p.Leu167Val
ENST00000368842.9:c.499C>G ENSP00000357835.5:p.Leu167Val
ENST00000392757.8:c.499C>G ENSP00000376512.4:p.Leu167Val
ENST00000481452.1:n.145C>G
XM_005270025.2:c.499C>G XP_005270082.1:p.Leu167Val
XM_005270026.2:c.499C>G XP_005270083.1:p.Leu167Val
XM_005270026.4:c.499C>G XP_005270083.1:p.Leu167Val
XM_005270027.2:c.499C>G XP_005270084.1:p.Leu167Val
XM_006717943.1:c.499C>G XP_006718006.1:p.Leu167Val
XM_011540055.1:c.499C>G XP_011538357.1:p.Leu167Val
XM_011540056.1:c.499C>G XP_011538358.1:p.Leu167Val
XM_011540057.1:c.499C>G XP_011538359.1:p.Leu167Val
XM_011540058.1:c.499C>G XP_011538360.1:p.Leu167Val
XM_011540058.3:c.499C>G XP_011538360.1:p.Leu167Val
XM_017016509.1:c.499C>G XP_016871998.1:p.Leu167Val
XM_017016510.1:c.499C>G XP_016871999.1:p.Leu167Val
XM_017016511.1:c.499C>G XP_016872000.1:p.Leu167Val
XM_024448122.1:c.499C>G XP_024303890.1:p.Leu167Val
XR_001747177.2:n.539C>G
XR_945797.1:n.539C>G