Canonical Allele Identifier: CA1640411178
Community Standard Title: NM_017934.7(PHIP):c.860C= (p.Ser287=)
Gene: PHIP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.79025582G= , CM000668.2:g.79025582G= GRCh38
NC_000006.11:g.79735299G= , CM000668.1:g.79735299G= GRCh37
NC_000006.10:g.79792018G= NCBI36
NG_051932.1:g.57717C=

Transcript Alleles

HGVS Amino-acid Change
NM_017934.7:c.860C= MANE Select NP_060404.4:p.Ser287=
ENST00000275034.5:c.860C= MANE Select ENSP00000275034.3:p.Ser287=
NM_017934.5:c.860C= NP_060404.3:p.Ser287=
NM_017934.6:c.860C= NP_060404.4:p.Ser287=
ENST00000275034.4:c.860C= ENSP00000275034.3:p.Ser287=
ENST00000700012.1:c.878C= ENSP00000514753.1:p.Ser293=
ENST00000700013.1:c.878C= ENSP00000514754.1:p.Ser293=
ENST00000700114.1:c.800C= ENSP00000514808.1:p.Ser267=
ENST00000700115.1:c.860C= ENSP00000514809.1:p.Ser287=
ENST00000700118.1:c.860C= ENSP00000514810.1:p.Ser287=
ENST00000700119.1:c.*671C= ENSP00000514811.1:n.*671C=
XM_005248729.3:c.860C= XP_005248786.1:p.Ser287=
XM_005248729.5:c.860C= XP_005248786.1:p.Ser287=
XM_011535917.1:c.860C= XP_011534219.1:p.Ser287=
XM_011535918.1:c.344C= XP_011534220.1:p.Ser115=
XM_011535918.3:c.344C= XP_011534220.1:p.Ser115=
XM_011535919.1:c.860C= XP_011534221.1:p.Ser287=
XM_017010989.2:c.-870C= XP_016866478.1:n.-870C=
XM_017010990.2:c.-870C= XP_016866479.1:n.-870C=
XR_942499.1:n.1086C=