Canonical Allele Identifier: CA364640384

Gene: PHIP IRAK1BP1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.78947676C>A , CM000668.2:g.78947676C>A	GRCh38
NC_000006.11:g.79657393C>A , CM000668.1:g.79657393C>A	GRCh37
NC_000006.10:g.79714112C>A	NCBI36
NG_051932.1:g.135623G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_017934.7:c.4153G>T (PHIP) MANE Select	NP_060404.4:p.Val1385Phe
ENST00000275034.5:c.4153G>T (PHIP) MANE Select	ENSP00000275034.3:p.Val1385Phe
NM_017934.5:c.4153G>T (PHIP)	NP_060404.3:p.Val1385Phe
NM_017934.6:c.4153G>T (PHIP)	NP_060404.4:p.Val1385Phe
ENST00000275034.4:c.4153G>T (PHIP)	ENSP00000275034.3:p.Val1385Phe
ENST00000479165.1:n.4234G>T (PHIP)
ENST00000700013.1:c.4171G>T (PHIP)	ENSP00000514754.1:p.Val1391Phe
ENST00000700114.1:c.4093G>T (PHIP)	ENSP00000514808.1:p.Val1365Phe
ENST00000700115.1:c.4150G>T (PHIP)	ENSP00000514809.1:p.Val1384Phe
ENST00000700116.1:n.2352G>T (PHIP)
ENST00000700118.1:c.4192G>T (PHIP)	ENSP00000514810.1:p.Val1398Phe
ENST00000700170.1:n.801G>T (PHIP)
ENST00000700171.1:c.105G>T (PHIP)
XM_005248729.3:c.4150G>T (PHIP)	XP_005248786.1:p.Val1384Phe
XM_005248729.5:c.4150G>T (PHIP)	XP_005248786.1:p.Val1384Phe
XM_011535917.1:c.4054-802G>T (PHIP)	XP_011534219.1:n.4054-802G>T
XM_011535918.1:c.3637G>T (PHIP)	XP_011534220.1:p.Val1213Phe
XM_011535918.3:c.3637G>T (PHIP)	XP_011534220.1:p.Val1213Phe
XM_017010989.2:c.2488G>T (PHIP)	XP_016866478.1:p.Val830Phe
XM_017010990.2:c.2488G>T (PHIP)	XP_016866479.1:p.Val830Phe
XR_001743162.1:n.817+12107C>A (IRAK1BP1)
XR_942499.1:n.4379G>T (PHIP)