Canonical Allele Identifier: CA3899514
Community Standard Title: NM_017934.7(PHIP):c.4155C>T (p.Val1385=)
Gene: PHIP HGNC NCBI
IRAK1BP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.78947674G>A , CM000668.2:g.78947674G>A GRCh38
NC_000006.11:g.79657391G>A , CM000668.1:g.79657391G>A GRCh37
NC_000006.10:g.79714110G>A NCBI36
NG_051932.1:g.135625C>T

Transcript Alleles

HGVS Amino-acid Change
NM_017934.7:c.4155C>T (PHIP) MANE Select NP_060404.4:p.Val1385=
ENST00000275034.5:c.4155C>T (PHIP) MANE Select ENSP00000275034.3:p.Val1385=
NM_017934.5:c.4155C>T (PHIP) NP_060404.3:p.Val1385=
NM_017934.6:c.4155C>T (PHIP) NP_060404.4:p.Val1385=
ENST00000275034.4:c.4155C>T (PHIP) ENSP00000275034.3:p.Val1385=
ENST00000479165.1:n.4236C>T (PHIP)
ENST00000700013.1:c.4173C>T (PHIP) ENSP00000514754.1:p.Val1391=
ENST00000700114.1:c.4095C>T (PHIP) ENSP00000514808.1:p.Val1365=
ENST00000700115.1:c.4152C>T (PHIP) ENSP00000514809.1:p.Val1384=
ENST00000700116.1:n.2354C>T (PHIP)
ENST00000700118.1:c.4194C>T (PHIP) ENSP00000514810.1:p.Val1398=
ENST00000700170.1:n.803C>T (PHIP)
ENST00000700171.1:c.107C>T (PHIP)
XM_005248729.3:c.4152C>T (PHIP) XP_005248786.1:p.Val1384=
XM_005248729.5:c.4152C>T (PHIP) XP_005248786.1:p.Val1384=
XM_011535917.1:c.4054-800C>T (PHIP) XP_011534219.1:n.4054-800C>T
XM_011535918.1:c.3639C>T (PHIP) XP_011534220.1:p.Val1213=
XM_011535918.3:c.3639C>T (PHIP) XP_011534220.1:p.Val1213=
XM_017010989.2:c.2490C>T (PHIP) XP_016866478.1:p.Val830=
XM_017010990.2:c.2490C>T (PHIP) XP_016866479.1:p.Val830=
XR_001743162.1:n.817+12105G>A (IRAK1BP1)
XR_942499.1:n.4381C>T (PHIP)