Canonical Allele Identifier: CA3899485

Gene: PHIP IRAK1BP1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.78946845A>T , CM000668.2:g.78946845A>T	GRCh38
NC_000006.11:g.79656562A>T , CM000668.1:g.79656562A>T	GRCh37
NC_000006.10:g.79713281A>T	NCBI36
NG_051932.1:g.136454T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_017934.7:c.4236T>A (PHIP) MANE Select	NP_060404.4:p.Ala1412=
ENST00000275034.5:c.4236T>A (PHIP) MANE Select	ENSP00000275034.3:p.Ala1412=
NM_017934.5:c.4236T>A (PHIP)	NP_060404.3:p.Ala1412=
NM_017934.6:c.4236T>A (PHIP)	NP_060404.4:p.Ala1412=
ENST00000275034.4:c.4236T>A (PHIP)	ENSP00000275034.3:p.Ala1412=
ENST00000479165.1:n.4317T>A (PHIP)
ENST00000700013.1:c.4254T>A (PHIP)	ENSP00000514754.1:p.Ala1418=
ENST00000700114.1:c.4176T>A (PHIP)	ENSP00000514808.1:p.Ala1392=
ENST00000700115.1:c.4233T>A (PHIP)	ENSP00000514809.1:p.Ala1411=
ENST00000700116.1:n.2435T>A (PHIP)
ENST00000700118.1:c.4275T>A (PHIP)	ENSP00000514810.1:p.Ala1425=
ENST00000700170.1:n.884T>A (PHIP)
ENST00000700171.1:c.188T>A (PHIP)
XM_005248729.3:c.4233T>A (PHIP)	XP_005248786.1:p.Ala1411=
XM_005248729.5:c.4233T>A (PHIP)	XP_005248786.1:p.Ala1411=
XM_011535917.1:c.4083T>A (PHIP)	XP_011534219.1:p.Ala1361=
XM_011535918.1:c.3720T>A (PHIP)	XP_011534220.1:p.Ala1240=
XM_011535918.3:c.3720T>A (PHIP)	XP_011534220.1:p.Ala1240=
XM_017010989.2:c.2571T>A (PHIP)	XP_016866478.1:p.Ala857=
XM_017010990.2:c.2571T>A (PHIP)	XP_016866479.1:p.Ala857=
XR_001743162.1:n.817+11276A>T (IRAK1BP1)
XR_942499.1:n.4462T>A (PHIP)