Canonical Allele Identifier: CA16618332

Gene: PHIP

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79026002G>A , CM000668.2:g.79026002G>A	GRCh38
NC_000006.11:g.79735719G>A , CM000668.1:g.79735719G>A	GRCh37
NC_000006.10:g.79792438G>A	NCBI36
NG_051932.1:g.57297C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700012.1:c.781C>T	ENSP00000514753.1:p.Arg261Ter
ENST00000700013.1:c.781C>T	ENSP00000514754.1:p.Arg261Ter
ENST00000700114.1:c.703C>T	ENSP00000514808.1:p.Arg235Ter
ENST00000700115.1:c.763C>T	ENSP00000514809.1:p.Arg255Ter
ENST00000700118.1:c.763C>T	ENSP00000514810.1:p.Arg255Ter
ENST00000700119.1:c.*574C>T	ENSP00000514811.1:n.*574C>T
ENST00000275034.5:c.763C>T MANE Select	ENSP00000275034.3:p.Arg255Ter
ENST00000275034.4:c.763C>T	ENSP00000275034.3:p.Arg255Ter
NM_017934.5:c.763C>T	NP_060404.3:p.Arg255Ter
XM_005248729.3:c.763C>T	XP_005248786.1:p.Arg255Ter
XM_011535917.1:c.763C>T	XP_011534219.1:p.Arg255Ter
XM_011535918.1:c.247C>T	XP_011534220.1:p.Arg83Ter
XM_011535919.1:c.763C>T	XP_011534221.1:p.Arg255Ter
XR_942499.1:n.989C>T
NM_017934.6:c.763C>T	NP_060404.4:p.Arg255Ter
XM_005248729.5:c.763C>T	XP_005248786.1:p.Arg255Ter
XM_011535918.3:c.247C>T	XP_011534220.1:p.Arg83Ter
XM_017010989.2:c.-967C>T	XP_016866478.1:n.-967C>T
XM_017010990.2:c.-967C>T	XP_016866479.1:n.-967C>T
NM_017934.7:c.763C>T MANE Select	NP_060404.4:p.Arg255Ter