Canonical Allele Identifier: CA2573052744

Gene: PHIP IRAK1BP1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.78961687A>G , CM000668.2:g.78961687A>G	GRCh38
NC_000006.11:g.79671404A>G , CM000668.1:g.79671404A>G	GRCh37
NC_000006.10:g.79728123A>G	NCBI36
NG_051932.1:g.121612T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_017934.7:c.3656+3T>C (PHIP) MANE Select	NP_060404.4:n.3656+3T>C
ENST00000275034.5:c.3656+3T>C (PHIP) MANE Select	ENSP00000275034.3:n.3656+3T>C
NM_017934.5:c.3656+3T>C (PHIP)	NP_060404.3:n.3656+3T>C
NM_017934.6:c.3656+3T>C (PHIP)	NP_060404.4:n.3656+3T>C
ENST00000275034.4:c.3656+3T>C (PHIP)	ENSP00000275034.3:n.3656+3T>C
ENST00000479165.1:n.945+3T>C (PHIP)
ENST00000700013.1:c.3674+3T>C (PHIP)	ENSP00000514754.1:n.3674+3T>C
ENST00000700114.1:c.3596+3T>C (PHIP)	ENSP00000514808.1:n.3596+3T>C
ENST00000700115.1:c.3653+3T>C (PHIP)	ENSP00000514809.1:n.3653+3T>C
ENST00000700117.1:n.918T>C (PHIP)
ENST00000700118.1:c.3695+3T>C (PHIP)	ENSP00000514810.1:n.3695+3T>C
ENST00000700172.1:n.1086+3T>C (PHIP)
XM_005248729.3:c.3653+3T>C (PHIP)	XP_005248786.1:n.3653+3T>C
XM_005248729.5:c.3653+3T>C (PHIP)	XP_005248786.1:n.3653+3T>C
XM_011535917.1:c.3656+3T>C (PHIP)	XP_011534219.1:n.3656+3T>C
XM_011535918.1:c.3140+3T>C (PHIP)	XP_011534220.1:n.3140+3T>C
XM_011535918.3:c.3140+3T>C (PHIP)	XP_011534220.1:n.3140+3T>C
XM_017010989.2:c.1991+3T>C (PHIP)	XP_016866478.1:n.1991+3T>C
XM_017010990.2:c.1991+3T>C (PHIP)	XP_016866479.1:n.1991+3T>C
XR_001743162.1:n.818-17446A>G (IRAK1BP1)
XR_942499.1:n.3882+3T>C (PHIP)