Canonical Allele Identifier: CA364645632

Gene: PHIP IRAK1BP1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.78961732T>A , CM000668.2:g.78961732T>A	GRCh38
NC_000006.11:g.79671449T>A , CM000668.1:g.79671449T>A	GRCh37
NC_000006.10:g.79728168T>A	NCBI36
NG_051932.1:g.121567A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_017934.7:c.3614A>T (PHIP) MANE Select	NP_060404.4:p.Asp1205Val
ENST00000275034.5:c.3614A>T (PHIP) MANE Select	ENSP00000275034.3:p.Asp1205Val
NM_017934.5:c.3614A>T (PHIP)	NP_060404.3:p.Asp1205Val
NM_017934.6:c.3614A>T (PHIP)	NP_060404.4:p.Asp1205Val
ENST00000275034.4:c.3614A>T (PHIP)	ENSP00000275034.3:p.Asp1205Val
ENST00000479165.1:n.903A>T (PHIP)
ENST00000700013.1:c.3632A>T (PHIP)	ENSP00000514754.1:p.Asp1211Val
ENST00000700114.1:c.3554A>T (PHIP)	ENSP00000514808.1:p.Asp1185Val
ENST00000700115.1:c.3611A>T (PHIP)	ENSP00000514809.1:p.Asp1204Val
ENST00000700117.1:n.873A>T (PHIP)
ENST00000700118.1:c.3653A>T (PHIP)	ENSP00000514810.1:p.Asp1218Val
ENST00000700172.1:n.1044A>T (PHIP)
XM_005248729.3:c.3611A>T (PHIP)	XP_005248786.1:p.Asp1204Val
XM_005248729.5:c.3611A>T (PHIP)	XP_005248786.1:p.Asp1204Val
XM_011535917.1:c.3614A>T (PHIP)	XP_011534219.1:p.Asp1205Val
XM_011535918.1:c.3098A>T (PHIP)	XP_011534220.1:p.Asp1033Val
XM_011535918.3:c.3098A>T (PHIP)	XP_011534220.1:p.Asp1033Val
XM_017010989.2:c.1949A>T (PHIP)	XP_016866478.1:p.Asp650Val
XM_017010990.2:c.1949A>T (PHIP)	XP_016866479.1:p.Asp650Val
XR_001743162.1:n.818-17401T>A (IRAK1BP1)
XR_942499.1:n.3840A>T (PHIP)