Canonical Allele Identifier: CA1640385417

Gene: PHIP IRAK1BP1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.78970876G= , CM000668.2:g.78970876G=	GRCh38
NC_000006.11:g.79680593G= , CM000668.1:g.79680593G=	GRCh37
NC_000006.10:g.79737312G=	NCBI36
NG_051932.1:g.112423C=

Transcript Alleles

HGVS	Amino-acid Change
NM_017934.7:c.2902C= (PHIP) MANE Select	NP_060404.4:p.Arg968=
ENST00000275034.5:c.2902C= (PHIP) MANE Select	ENSP00000275034.3:p.Arg968=
NM_017934.5:c.2902C= (PHIP)	NP_060404.3:p.Arg968=
NM_017934.6:c.2902C= (PHIP)	NP_060404.4:p.Arg968=
ENST00000275034.4:c.2902C= (PHIP)	ENSP00000275034.3:p.Arg968=
ENST00000479165.1:n.191C= (PHIP)
ENST00000700013.1:c.2920C= (PHIP)	ENSP00000514754.1:p.Arg974=
ENST00000700114.1:c.2842C= (PHIP)	ENSP00000514808.1:p.Arg948=
ENST00000700115.1:c.2899C= (PHIP)	ENSP00000514809.1:p.Arg967=
ENST00000700118.1:c.2941C= (PHIP)	ENSP00000514810.1:p.Arg981=
ENST00000700172.1:n.332C= (PHIP)
XM_005248729.3:c.2899C= (PHIP)	XP_005248786.1:p.Arg967=
XM_005248729.5:c.2899C= (PHIP)	XP_005248786.1:p.Arg967=
XM_011535917.1:c.2902C= (PHIP)	XP_011534219.1:p.Arg968=
XM_011535918.1:c.2386C= (PHIP)	XP_011534220.1:p.Arg796=
XM_011535918.3:c.2386C= (PHIP)	XP_011534220.1:p.Arg796=
XM_011535919.1:c.2902C= (PHIP)	XP_011534221.1:p.Arg968=
XM_017010989.2:c.1237C= (PHIP)	XP_016866478.1:p.Arg413=
XM_017010990.2:c.1237C= (PHIP)	XP_016866479.1:p.Arg413=
XR_001743162.1:n.818-8257G= (IRAK1BP1)
XR_942499.1:n.3128C= (PHIP)