Canonical Allele Identifier: CA9372322
Community Standard Title: NM_001384133.1(HPN):c.288C>G (p.Leu96=)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35059800C>G , CM000681.2:g.35059800C>G GRCh38
NC_000019.9:g.35550704C>G , CM000681.1:g.35550704C>G GRCh37
NC_000019.8:g.40242544C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001384133.1:c.288C>G (HPN) MANE Select NP_001371062.1:p.Leu96=
ENST00000672452.2:c.288C>G (HPN) MANE Select ENSP00000500664.1:p.Leu96=
NM_001375441.1:c.288C>G (HPN) NP_001362370.1:p.Leu96=
NM_001375441.3:c.288C>G (HPN) NP_001362370.1:p.Leu96=
NM_002151.2:c.288C>G (HPN) NP_002142.1:p.Leu96=
NM_002151.3:c.288C>G (HPN) NP_002142.1:p.Leu96=
NM_002151.5:c.288C>G (HPN) NP_002142.1:p.Leu96=
NM_182983.2:c.288C>G (HPN) NP_892028.1:p.Leu96=
NM_182983.3:c.288C>G (HPN) NP_892028.1:p.Leu96=
NM_182983.5:c.288C>G (HPN) NP_892028.1:p.Leu96=
NR_024562.1:n.405-22G>C (HPN-AS1)
ENST00000262626.6:c.288C>G (HPN) ENSP00000262626.2:p.Leu96=
ENST00000392226.5:c.288C>G (HPN) ENSP00000376060.1:p.Leu96=
ENST00000541345.6:n.367C>G (HPN)
ENST00000593305.1:n.329C>G (HPN)
ENST00000596662.5:n.374C>G (HPN)
ENST00000597419.1:c.144C>G (HPN) ENSP00000470327.1:p.Leu48=
ENST00000599363.5:n.304C>G (HPN)
ENST00000600675.1:n.371C>G (HPN)
ENST00000673426.1:c.288C>G (HPN) ENSP00000500909.1:p.Leu96=
XM_005258838.3:c.288C>G (HPN) XP_005258895.2:p.Leu96=
XM_005258838.4:c.288C>G (HPN) XP_005258895.2:p.Leu96=
XM_006723181.2:c.288C>G (HPN) XP_006723244.2:p.Leu96=
XM_011526891.1:c.204C>G (HPN) XP_011525193.1:p.Leu68=
XM_017026731.1:c.288C>G (HPN) XP_016882220.1:p.Leu96=
XM_017026732.1:c.204C>G (HPN) XP_016882221.1:p.Leu68=