Canonical Allele Identifier: CA3899845

Gene: PHIP IRAK1BP1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.78978649T>C , CM000668.2:g.78978649T>C	GRCh38
NC_000006.11:g.79688366T>C , CM000668.1:g.79688366T>C	GRCh37
NC_000006.10:g.79745085T>C	NCBI36
NG_051932.1:g.104650A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_017934.7:c.2832A>G (PHIP) MANE Select	NP_060404.4:p.Thr944=
ENST00000275034.5:c.2832A>G (PHIP) MANE Select	ENSP00000275034.3:p.Thr944=
NM_017934.5:c.2832A>G (PHIP)	NP_060404.3:p.Thr944=
NM_017934.6:c.2832A>G (PHIP)	NP_060404.4:p.Thr944=
ENST00000275034.4:c.2832A>G (PHIP)	ENSP00000275034.3:p.Thr944=
ENST00000479165.1:n.121A>G (PHIP)
ENST00000700013.1:c.2850A>G (PHIP)	ENSP00000514754.1:p.Thr950=
ENST00000700114.1:c.2772A>G (PHIP)	ENSP00000514808.1:p.Thr924=
ENST00000700115.1:c.2829A>G (PHIP)	ENSP00000514809.1:p.Thr943=
ENST00000700118.1:c.2871A>G (PHIP)	ENSP00000514810.1:p.Thr957=
ENST00000700172.1:n.262A>G (PHIP)
XM_005248729.3:c.2829A>G (PHIP)	XP_005248786.1:p.Thr943=
XM_005248729.5:c.2829A>G (PHIP)	XP_005248786.1:p.Thr943=
XM_011535917.1:c.2832A>G (PHIP)	XP_011534219.1:p.Thr944=
XM_011535918.1:c.2316A>G (PHIP)	XP_011534220.1:p.Thr772=
XM_011535918.3:c.2316A>G (PHIP)	XP_011534220.1:p.Thr772=
XM_011535919.1:c.2832A>G (PHIP)	XP_011534221.1:p.Thr944=
XM_017010989.2:c.1167A>G (PHIP)	XP_016866478.1:p.Thr389=
XM_017010990.2:c.1167A>G (PHIP)	XP_016866479.1:p.Thr389=
XR_001743162.1:n.818-484T>C (IRAK1BP1)
XR_942499.1:n.3058A>G (PHIP)