Canonical Allele Identifier: CA364632810

Gene: PHIP IRAK1BP1

Linked Data

• MyVariant Identifiers: chr6:g.79650608A>T (hg19) ; chr6:g.78940891A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.78940891A>T , CM000668.2:g.78940891A>T	GRCh38
NC_000006.11:g.79650608A>T , CM000668.1:g.79650608A>T	GRCh37
NC_000006.10:g.79707327A>T	NCBI36
NG_051932.1:g.142408T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700013.1:c.5286T>A (PHIP)	ENSP00000514754.1:p.Phe1762Leu
ENST00000700114.1:c.5208T>A (PHIP)	ENSP00000514808.1:p.Phe1736Leu
ENST00000700115.1:c.5265T>A (PHIP)	ENSP00000514809.1:p.Phe1755Leu
ENST00000700116.1:n.3467T>A (PHIP)
ENST00000700118.1:c.5307T>A (PHIP)	ENSP00000514810.1:p.Phe1769Leu
ENST00000700170.1:n.1867T>A (PHIP)
ENST00000700171.1:c.1290T>A (PHIP)
ENST00000275034.5:c.5268T>A (PHIP) MANE Select	ENSP00000275034.3:p.Phe1756Leu
ENST00000275034.4:c.5268T>A (PHIP)	ENSP00000275034.3:p.Phe1756Leu
ENST00000479165.1:n.5349T>A (PHIP)
ENST00000606868.5:c.602-4517A>T (IRAK1BP1)	ENSP00000475570.1:n.602-4517A>T
NM_017934.5:c.5268T>A (PHIP)	NP_060404.3:p.Phe1756Leu
XM_005248729.3:c.5265T>A (PHIP)	XP_005248786.1:p.Phe1755Leu
XM_011535917.1:c.5115T>A (PHIP)	XP_011534219.1:p.Phe1705Leu
XM_011535918.1:c.4752T>A (PHIP)	XP_011534220.1:p.Phe1584Leu
NM_017934.6:c.5268T>A (PHIP)	NP_060404.4:p.Phe1756Leu
XM_005248729.5:c.5265T>A (PHIP)	XP_005248786.1:p.Phe1755Leu
XM_011535918.3:c.4752T>A (PHIP)	XP_011534220.1:p.Phe1584Leu
XM_017010989.2:c.3603T>A (PHIP)	XP_016866478.1:p.Phe1201Leu
XM_017010990.2:c.3603T>A (PHIP)	XP_016866479.1:p.Phe1201Leu
XR_001743162.1:n.817+5322A>T (IRAK1BP1)
NM_017934.7:c.5268T>A (PHIP) MANE Select	NP_060404.4:p.Phe1756Leu