Canonical Allele Identifier: CA1640379758
Gene: PHIP HGNC NCBI
IRAK1BP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.78958150C>A , CM000668.2:g.78958150C>A GRCh38
NC_000006.11:g.79667867C>A , CM000668.1:g.79667867C>A GRCh37
NC_000006.10:g.79724586C>A NCBI36
NG_051932.1:g.125149G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000700013.1:c.3800+325G>T (PHIP) ENSP00000514754.1:n.3800+325G>T
ENST00000700114.1:c.3722+325G>T (PHIP) ENSP00000514808.1:n.3722+325G>T
ENST00000700115.1:c.3779+325G>T (PHIP) ENSP00000514809.1:n.3779+325G>T
ENST00000700116.1:n.1882+325G>T (PHIP)
ENST00000700118.1:c.3821+325G>T (PHIP) ENSP00000514810.1:n.3821+325G>T
ENST00000700172.1:n.1213-50G>T (PHIP)
ENST00000275034.5:c.3782+325G>T (PHIP) MANE Select ENSP00000275034.3:n.3782+325G>T
ENST00000275034.4:c.3782+325G>T (PHIP) ENSP00000275034.3:n.3782+325G>T
ENST00000479165.1:n.1396G>T (PHIP)
NM_017934.5:c.3782+325G>T (PHIP) NP_060404.3:n.3782+325G>T
XM_005248729.3:c.3779+325G>T (PHIP) XP_005248786.1:n.3779+325G>T
XM_011535917.1:c.3782+325G>T (PHIP) XP_011534219.1:n.3782+325G>T
XM_011535918.1:c.3266+325G>T (PHIP) XP_011534220.1:n.3266+325G>T
XR_942499.1:n.4008+325G>T (PHIP)
NM_017934.6:c.3782+325G>T (PHIP) NP_060404.4:n.3782+325G>T
XM_005248729.5:c.3779+325G>T (PHIP) XP_005248786.1:n.3779+325G>T
XM_011535918.3:c.3266+325G>T (PHIP) XP_011534220.1:n.3266+325G>T
XM_017010989.2:c.2117+325G>T (PHIP) XP_016866478.1:n.2117+325G>T
XM_017010990.2:c.2117+325G>T (PHIP) XP_016866479.1:n.2117+325G>T
XR_001743162.1:n.818-20983C>A (IRAK1BP1)
NM_017934.7:c.3782+325G>T (PHIP) MANE Select NP_060404.4:n.3782+325G>T