Canonical Allele Identifier: CA364635487

Gene: PHIP IRAK1BP1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.78945431A>C , CM000668.2:g.78945431A>C	GRCh38
NC_000006.11:g.79655148A>C , CM000668.1:g.79655148A>C	GRCh37
NC_000006.10:g.79711867A>C	NCBI36
NG_051932.1:g.137868T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_017934.7:c.4697T>G (PHIP) MANE Select	NP_060404.4:p.Phe1566Cys
ENST00000275034.5:c.4697T>G (PHIP) MANE Select	ENSP00000275034.3:p.Phe1566Cys
NM_017934.5:c.4697T>G (PHIP)	NP_060404.3:p.Phe1566Cys
NM_017934.6:c.4697T>G (PHIP)	NP_060404.4:p.Phe1566Cys
ENST00000275034.4:c.4697T>G (PHIP)	ENSP00000275034.3:p.Phe1566Cys
ENST00000479165.1:n.4778T>G (PHIP)
ENST00000606868.5:c.625A>C (IRAK1BP1)	ENSP00000475570.1:n.625A>C
ENST00000700013.1:c.4715T>G (PHIP)	ENSP00000514754.1:p.Phe1572Cys
ENST00000700114.1:c.4637T>G (PHIP)	ENSP00000514808.1:p.Phe1546Cys
ENST00000700115.1:c.4694T>G (PHIP)	ENSP00000514809.1:p.Phe1565Cys
ENST00000700116.1:n.2896T>G (PHIP)
ENST00000700118.1:c.4736T>G (PHIP)	ENSP00000514810.1:p.Phe1579Cys
ENST00000700170.1:n.1296T>G (PHIP)
ENST00000700171.1:c.719T>G (PHIP)
XM_005248729.3:c.4694T>G (PHIP)	XP_005248786.1:p.Phe1565Cys
XM_005248729.5:c.4694T>G (PHIP)	XP_005248786.1:p.Phe1565Cys
XM_011535917.1:c.4544T>G (PHIP)	XP_011534219.1:p.Phe1515Cys
XM_011535918.1:c.4181T>G (PHIP)	XP_011534220.1:p.Phe1394Cys
XM_011535918.3:c.4181T>G (PHIP)	XP_011534220.1:p.Phe1394Cys
XM_017010989.2:c.3032T>G (PHIP)	XP_016866478.1:p.Phe1011Cys
XM_017010990.2:c.3032T>G (PHIP)	XP_016866479.1:p.Phe1011Cys
XR_001743162.1:n.817+9862A>C (IRAK1BP1)