Canonical Allele Identifier: CA451020779
Gene: PHIP HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.79752628G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.79042911G>T , CM000668.2:g.79042911G>T GRCh38
NC_000006.11:g.79752628G>T , CM000668.1:g.79752628G>T GRCh37
NC_000006.10:g.79809347G>T NCBI36
NG_051932.1:g.40388C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000700012.1:c.550C>A ENSP00000514753.1:p.Arg184=
ENST00000700013.1:c.550C>A ENSP00000514754.1:p.Arg184=
ENST00000700114.1:c.472C>A ENSP00000514808.1:p.Arg158=
ENST00000700115.1:c.532C>A ENSP00000514809.1:p.Arg178=
ENST00000700118.1:c.532C>A ENSP00000514810.1:p.Arg178=
ENST00000700119.1:c.*343C>A ENSP00000514811.1:n.*343C>A
ENST00000700120.1:n.460C>A
ENST00000275034.5:c.532C>A MANE Select ENSP00000275034.3:p.Arg178=
ENST00000275034.4:c.532C>A ENSP00000275034.3:p.Arg178=
NM_017934.5:c.532C>A NP_060404.3:p.Arg178=
XM_005248729.3:c.532C>A XP_005248786.1:p.Arg178=
XM_011535917.1:c.532C>A XP_011534219.1:p.Arg178=
XM_011535918.1:c.16C>A XP_011534220.1:p.Arg6=
XM_011535919.1:c.532C>A XP_011534221.1:p.Arg178=
XR_942499.1:n.758C>A
NM_017934.6:c.532C>A NP_060404.4:p.Arg178=
XM_005248729.5:c.532C>A XP_005248786.1:p.Arg178=
XM_011535918.3:c.16C>A XP_011534220.1:p.Arg6=
XM_017010989.2:c.-1198C>A XP_016866478.1:n.-1198C>A
XM_017010990.2:c.-1198C>A XP_016866479.1:n.-1198C>A
NM_017934.7:c.532C>A MANE Select NP_060404.4:p.Arg178=