Canonical Allele Identifier: CA364646321

Gene: PHIP IRAK1BP1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.78963172C>A , CM000668.2:g.78963172C>A	GRCh38
NC_000006.11:g.79672889C>A , CM000668.1:g.79672889C>A	GRCh37
NC_000006.10:g.79729608C>A	NCBI36
NG_051932.1:g.120127G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_017934.7:c.3460G>T (PHIP) MANE Select	NP_060404.4:p.Gly1154Ter
ENST00000275034.5:c.3460G>T (PHIP) MANE Select	ENSP00000275034.3:p.Gly1154Ter
NM_017934.5:c.3460G>T (PHIP)	NP_060404.3:p.Gly1154Ter
NM_017934.6:c.3460G>T (PHIP)	NP_060404.4:p.Gly1154Ter
ENST00000275034.4:c.3460G>T (PHIP)	ENSP00000275034.3:p.Gly1154Ter
ENST00000479165.1:n.749G>T (PHIP)
ENST00000700013.1:c.3478G>T (PHIP)	ENSP00000514754.1:p.Gly1160Ter
ENST00000700114.1:c.3400G>T (PHIP)	ENSP00000514808.1:p.Gly1134Ter
ENST00000700115.1:c.3457G>T (PHIP)	ENSP00000514809.1:p.Gly1153Ter
ENST00000700117.1:n.719G>T (PHIP)
ENST00000700118.1:c.3499G>T (PHIP)	ENSP00000514810.1:p.Gly1167Ter
ENST00000700172.1:n.890G>T (PHIP)
XM_005248729.3:c.3457G>T (PHIP)	XP_005248786.1:p.Gly1153Ter
XM_005248729.5:c.3457G>T (PHIP)	XP_005248786.1:p.Gly1153Ter
XM_011535917.1:c.3460G>T (PHIP)	XP_011534219.1:p.Gly1154Ter
XM_011535918.1:c.2944G>T (PHIP)	XP_011534220.1:p.Gly982Ter
XM_011535918.3:c.2944G>T (PHIP)	XP_011534220.1:p.Gly982Ter
XM_017010989.2:c.1795G>T (PHIP)	XP_016866478.1:p.Gly599Ter
XM_017010990.2:c.1795G>T (PHIP)	XP_016866479.1:p.Gly599Ter
XR_001743162.1:n.818-15961C>A (IRAK1BP1)
XR_942499.1:n.3686G>T (PHIP)