Canonical Allele Identifier: CA9372602
Community Standard Title: NM_001384133.1(HPN):c.1088T>G (p.Ile363Ser)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35065905T>G , CM000681.2:g.35065905T>G GRCh38
NC_000019.9:g.35556809T>G , CM000681.1:g.35556809T>G GRCh37
NC_000019.8:g.40248649T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001384133.1:c.1088T>G (HPN) MANE Select NP_001371062.1:p.Ile363Ser
ENST00000672452.2:c.1088T>G (HPN) MANE Select ENSP00000500664.1:p.Ile363Ser
NM_001375441.1:c.1088T>G (HPN) NP_001362370.1:p.Ile363Ser
NM_001375441.3:c.1088T>G (HPN) NP_001362370.1:p.Ile363Ser
NM_002151.2:c.1088T>G (HPN) NP_002142.1:p.Ile363Ser
NM_002151.3:c.1088T>G (HPN) NP_002142.1:p.Ile363Ser
NM_002151.5:c.1088T>G (HPN) NP_002142.1:p.Ile363Ser
NM_182983.2:c.1088T>G (HPN) NP_892028.1:p.Ile363Ser
NM_182983.3:c.1088T>G (HPN) NP_892028.1:p.Ile363Ser
NM_182983.5:c.1088T>G (HPN) NP_892028.1:p.Ile363Ser
NR_024562.1:n.405-6127A>C (HPN-AS1)
ENST00000262626.6:c.1088T>G (HPN) ENSP00000262626.2:p.Ile363Ser
ENST00000392226.5:c.1088T>G (HPN) ENSP00000376060.1:p.Ile363Ser
ENST00000541345.6:n.1167T>G (HPN)
ENST00000593305.1:n.1509T>G (HPN)
ENST00000597419.1:c.614T>G (HPN) ENSP00000470327.1:p.Ile205Ser
ENST00000599363.5:n.1175T>G (HPN)
ENST00000673426.1:c.1088T>G (HPN) ENSP00000500909.1:p.Ile363Ser
XM_005258838.3:c.1088T>G (HPN) XP_005258895.2:p.Ile363Ser
XM_005258838.4:c.1088T>G (HPN) XP_005258895.2:p.Ile363Ser
XM_006723181.2:c.1088T>G (HPN) XP_006723244.2:p.Ile363Ser
XM_011526891.1:c.1004T>G (HPN) XP_011525193.1:p.Ile335Ser
XM_017026731.1:c.1088T>G (HPN) XP_016882220.1:p.Ile363Ser
XM_017026732.1:c.1004T>G (HPN) XP_016882221.1:p.Ile335Ser