Canonical Allele Identifier: CA451016590

Gene: PHIP

Linked Data

• MyVariant Identifiers: chr6:g.79735310C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79025593C>T , CM000668.2:g.79025593C>T	GRCh38
NC_000006.11:g.79735310C>T , CM000668.1:g.79735310C>T	GRCh37
NC_000006.10:g.79792029C>T	NCBI36
NG_051932.1:g.57706G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000700012.1:c.867G>A	ENSP00000514753.1:p.Lys289=
ENST00000700013.1:c.867G>A	ENSP00000514754.1:p.Lys289=
ENST00000700114.1:c.789G>A	ENSP00000514808.1:p.Lys263=
ENST00000700115.1:c.849G>A	ENSP00000514809.1:p.Lys283=
ENST00000700118.1:c.849G>A	ENSP00000514810.1:p.Lys283=
ENST00000700119.1:c.*660G>A	ENSP00000514811.1:n.*660G>A
ENST00000275034.5:c.849G>A MANE Select	ENSP00000275034.3:p.Lys283=
ENST00000275034.4:c.849G>A	ENSP00000275034.3:p.Lys283=
NM_017934.5:c.849G>A	NP_060404.3:p.Lys283=
XM_005248729.3:c.849G>A	XP_005248786.1:p.Lys283=
XM_011535917.1:c.849G>A	XP_011534219.1:p.Lys283=
XM_011535918.1:c.333G>A	XP_011534220.1:p.Lys111=
XM_011535919.1:c.849G>A	XP_011534221.1:p.Lys283=
XR_942499.1:n.1075G>A
NM_017934.6:c.849G>A	NP_060404.4:p.Lys283=
XM_005248729.5:c.849G>A	XP_005248786.1:p.Lys283=
XM_011535918.3:c.333G>A	XP_011534220.1:p.Lys111=
XM_017010989.2:c.-881G>A	XP_016866478.1:n.-881G>A
XM_017010990.2:c.-881G>A	XP_016866479.1:n.-881G>A
NM_017934.7:c.849G>A MANE Select	NP_060404.4:p.Lys283=