Canonical Allele Identifier: CA2679473428

Gene: PHIP IRAK1BP1

Linked Data - Sequence & Population

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.78958186C>T , CM000668.2:g.78958186C>T	GRCh38
NC_000006.11:g.79667903C>T , CM000668.1:g.79667903C>T	GRCh37
NC_000006.10:g.79724622C>T	NCBI36
NG_051932.1:g.125113G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700013.1:c.3800+289G>A (PHIP)	ENSP00000514754.1:n.3800+289G>A
ENST00000700114.1:c.3722+289G>A (PHIP)	ENSP00000514808.1:n.3722+289G>A
ENST00000700115.1:c.3779+289G>A (PHIP)	ENSP00000514809.1:n.3779+289G>A
ENST00000700116.1:n.1882+289G>A (PHIP)
ENST00000700118.1:c.3821+289G>A (PHIP)	ENSP00000514810.1:n.3821+289G>A
ENST00000700172.1:n.1213-86G>A (PHIP)
ENST00000275034.5:c.3782+289G>A (PHIP) MANE Select	ENSP00000275034.3:n.3782+289G>A
ENST00000275034.4:c.3782+289G>A (PHIP)	ENSP00000275034.3:n.3782+289G>A
ENST00000479165.1:n.1360G>A (PHIP)
NM_017934.5:c.3782+289G>A (PHIP)	NP_060404.3:n.3782+289G>A
XM_005248729.3:c.3779+289G>A (PHIP)	XP_005248786.1:n.3779+289G>A
XM_011535917.1:c.3782+289G>A (PHIP)	XP_011534219.1:n.3782+289G>A
XM_011535918.1:c.3266+289G>A (PHIP)	XP_011534220.1:n.3266+289G>A
XR_942499.1:n.4008+289G>A (PHIP)
NM_017934.6:c.3782+289G>A (PHIP)	NP_060404.4:n.3782+289G>A
XM_005248729.5:c.3779+289G>A (PHIP)	XP_005248786.1:n.3779+289G>A
XM_011535918.3:c.3266+289G>A (PHIP)	XP_011534220.1:n.3266+289G>A
XM_017010989.2:c.2117+289G>A (PHIP)	XP_016866478.1:n.2117+289G>A
XM_017010990.2:c.2117+289G>A (PHIP)	XP_016866479.1:n.2117+289G>A
XR_001743162.1:n.818-20947C>T (IRAK1BP1)
NM_017934.7:c.3782+289G>A (PHIP) MANE Select	NP_060404.4:n.3782+289G>A