Canonical Allele Identifier: CA451021049

Gene: PHIP

Linked Data

• gnomAD v4: 6-79042980-G-A
• MyVariant Identifiers: chr6:g.79752697G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79042980G>A , CM000668.2:g.79042980G>A	GRCh38
NC_000006.11:g.79752697G>A , CM000668.1:g.79752697G>A	GRCh37
NC_000006.10:g.79809416G>A	NCBI36
NG_051932.1:g.40319C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700012.1:c.481C>T	ENSP00000514753.1:p.Leu161=
ENST00000700013.1:c.481C>T	ENSP00000514754.1:p.Leu161=
ENST00000700114.1:c.403C>T	ENSP00000514808.1:p.Leu135=
ENST00000700115.1:c.463C>T	ENSP00000514809.1:p.Leu155=
ENST00000700118.1:c.463C>T	ENSP00000514810.1:p.Leu155=
ENST00000700119.1:c.*274C>T	ENSP00000514811.1:n.*274C>T
ENST00000700120.1:n.391C>T
ENST00000275034.5:c.463C>T MANE Select	ENSP00000275034.3:p.Leu155=
ENST00000275034.4:c.463C>T	ENSP00000275034.3:p.Leu155=
NM_017934.5:c.463C>T	NP_060404.3:p.Leu155=
XM_005248729.3:c.463C>T	XP_005248786.1:p.Leu155=
XM_011535917.1:c.463C>T	XP_011534219.1:p.Leu155=
XM_011535918.1:c.-54C>T	XP_011534220.1:n.-54C>T
XM_011535919.1:c.463C>T	XP_011534221.1:p.Leu155=
XR_942499.1:n.689C>T
NM_017934.6:c.463C>T	NP_060404.4:p.Leu155=
XM_005248729.5:c.463C>T	XP_005248786.1:p.Leu155=
XM_011535918.3:c.-54C>T	XP_011534220.1:n.-54C>T
XM_017010989.2:c.-1267C>T	XP_016866478.1:n.-1267C>T
XM_017010990.2:c.-1267C>T	XP_016866479.1:n.-1267C>T
NM_017934.7:c.463C>T MANE Select	NP_060404.4:p.Leu155=