Canonical Allele Identifier: CA3899488
Community Standard Title: NM_017934.7(PHIP):c.4228C>T (p.Leu1410=)
Gene: PHIP HGNC NCBI
IRAK1BP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.78946853G>A , CM000668.2:g.78946853G>A GRCh38
NC_000006.11:g.79656570G>A , CM000668.1:g.79656570G>A GRCh37
NC_000006.10:g.79713289G>A NCBI36
NG_051932.1:g.136446C>T

Transcript Alleles

HGVS Amino-acid Change
NM_017934.7:c.4228C>T (PHIP) MANE Select NP_060404.4:p.Leu1410=
ENST00000275034.5:c.4228C>T (PHIP) MANE Select ENSP00000275034.3:p.Leu1410=
NM_017934.5:c.4228C>T (PHIP) NP_060404.3:p.Leu1410=
NM_017934.6:c.4228C>T (PHIP) NP_060404.4:p.Leu1410=
ENST00000275034.4:c.4228C>T (PHIP) ENSP00000275034.3:p.Leu1410=
ENST00000479165.1:n.4309C>T (PHIP)
ENST00000700013.1:c.4246C>T (PHIP) ENSP00000514754.1:p.Leu1416=
ENST00000700114.1:c.4168C>T (PHIP) ENSP00000514808.1:p.Leu1390=
ENST00000700115.1:c.4225C>T (PHIP) ENSP00000514809.1:p.Leu1409=
ENST00000700116.1:n.2427C>T (PHIP)
ENST00000700118.1:c.4267C>T (PHIP) ENSP00000514810.1:p.Leu1423=
ENST00000700170.1:n.876C>T (PHIP)
ENST00000700171.1:c.180C>T (PHIP)
XM_005248729.3:c.4225C>T (PHIP) XP_005248786.1:p.Leu1409=
XM_005248729.5:c.4225C>T (PHIP) XP_005248786.1:p.Leu1409=
XM_011535917.1:c.4075C>T (PHIP) XP_011534219.1:p.Leu1359=
XM_011535918.1:c.3712C>T (PHIP) XP_011534220.1:p.Leu1238=
XM_011535918.3:c.3712C>T (PHIP) XP_011534220.1:p.Leu1238=
XM_017010989.2:c.2563C>T (PHIP) XP_016866478.1:p.Leu855=
XM_017010990.2:c.2563C>T (PHIP) XP_016866479.1:p.Leu855=
XR_001743162.1:n.817+11284G>A (IRAK1BP1)
XR_942499.1:n.4454C>T (PHIP)