Canonical Allele Identifier: CA114880
Gene: P3H1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1256
ClinVar RCV Id: RCV000001318
dbSNP Id: rs72659355
gnomAD v4: 1-42750250-G-T
MyVariant Identifiers: chr1:g.43215921G>T (hg19) chr1:g.42750250G>T (hg38)
PubMed: PMID:17277775
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42750250G>T , CM000663.2:g.42750250G>T GRCh38
NC_000001.10:g.43215921G>T , CM000663.1:g.43215921G>T GRCh37
NC_000001.9:g.42988508G>T NCBI36
NG_008123.1:g.21835C>A , LRG_5:g.21835C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000296388.10:c.1656C>A MANE Select ENSP00000296388.5:p.Tyr552Ter
ENST00000236040.8:c.1656C>A ENSP00000236040.4:p.Tyr552Ter
ENST00000296388.9:c.1656C>A ENSP00000296388.5:p.Tyr552Ter
ENST00000397054.7:c.1656C>A ENSP00000380245.3:p.Tyr552Ter
ENST00000431412.3:c.578C>A
ENST00000460031.5:n.1848C>A
ENST00000481465.3:n.379C>A
ENST00000495874.5:n.1936C>A
NM_001146289.1:c.1656C>A , LRG_5t2:c.1656C>A NP_001139761.1:p.Tyr552Ter
NM_001243246.1:c.1656C>A , LRG_5t3:c.1656C>A NP_001230175.1:p.Tyr552Ter
NM_022356.3:c.1656C>A , LRG_5t1:c.1656C>A NP_071751.3:p.Tyr552Ter
XM_005271110.2:c.648C>A XP_005271167.1:p.Tyr216Ter
XM_011541947.1:c.681C>A XP_011540249.1:p.Tyr227Ter
XM_011541948.1:c.681C>A XP_011540250.1:p.Tyr227Ter
XM_011541949.1:c.678C>A XP_011540251.1:p.Tyr226Ter
XM_017002051.2:c.681C>A XP_016857540.1:p.Tyr227Ter
XM_017002052.2:c.678C>A XP_016857541.1:p.Tyr226Ter
XR_946739.2:n.1781C>A
NM_022356.4:c.1656C>A MANE Select NP_071751.3:p.Tyr552Ter
NM_001146289.2:c.1656C>A NP_001139761.1:p.Tyr552Ter
NM_001243246.2:c.1656C>A NP_001230175.1:p.Tyr552Ter
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