Canonical Allele Identifier: CA451117255
Gene: PHIP HGNC NCBI
IRAK1BP1 HGNC NCBI
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.78940966G>C , CM000668.2:g.78940966G>C GRCh38
NC_000006.11:g.79650683G>C , CM000668.1:g.79650683G>C GRCh37
NC_000006.10:g.79707402G>C NCBI36
NG_051932.1:g.142333C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000700013.1:c.5211C>G (PHIP) ENSP00000514754.1:p.Val1737=
ENST00000700114.1:c.5133C>G (PHIP) ENSP00000514808.1:p.Val1711=
ENST00000700115.1:c.5190C>G (PHIP) ENSP00000514809.1:p.Val1730=
ENST00000700116.1:n.3392C>G (PHIP)
ENST00000700118.1:c.5232C>G (PHIP) ENSP00000514810.1:p.Val1744=
ENST00000700170.1:n.1792C>G (PHIP)
ENST00000700171.1:c.1215C>G (PHIP)
ENST00000275034.5:c.5193C>G (PHIP) MANE Select ENSP00000275034.3:p.Val1731=
ENST00000275034.4:c.5193C>G (PHIP) ENSP00000275034.3:p.Val1731=
ENST00000479165.1:n.5274C>G (PHIP)
ENST00000606868.5:c.602-4442G>C (IRAK1BP1) ENSP00000475570.1:n.602-4442G>C
NM_017934.5:c.5193C>G (PHIP) NP_060404.3:p.Val1731=
XM_005248729.3:c.5190C>G (PHIP) XP_005248786.1:p.Val1730=
XM_011535917.1:c.5040C>G (PHIP) XP_011534219.1:p.Val1680=
XM_011535918.1:c.4677C>G (PHIP) XP_011534220.1:p.Val1559=
NM_017934.6:c.5193C>G (PHIP) NP_060404.4:p.Val1731=
XM_005248729.5:c.5190C>G (PHIP) XP_005248786.1:p.Val1730=
XM_011535918.3:c.4677C>G (PHIP) XP_011534220.1:p.Val1559=
XM_017010989.2:c.3528C>G (PHIP) XP_016866478.1:p.Val1176=
XM_017010990.2:c.3528C>G (PHIP) XP_016866479.1:p.Val1176=
XR_001743162.1:n.817+5397G>C (IRAK1BP1)
NM_017934.7:c.5193C>G (PHIP) MANE Select NP_060404.4:p.Val1731=