Canonical Allele Identifier: CA364643089

Gene: PHIP

Linked Data

• MyVariant Identifiers: chr6:g.79752619C>G (hg19) ; chr6:g.79042902C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79042902C>G , CM000668.2:g.79042902C>G	GRCh38
NC_000006.11:g.79752619C>G , CM000668.1:g.79752619C>G	GRCh37
NC_000006.10:g.79809338C>G	NCBI36
NG_051932.1:g.40397G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000700012.1:c.559G>C	ENSP00000514753.1:p.Gly187Arg
ENST00000700013.1:c.559G>C	ENSP00000514754.1:p.Gly187Arg
ENST00000700114.1:c.481G>C	ENSP00000514808.1:p.Gly161Arg
ENST00000700115.1:c.541G>C	ENSP00000514809.1:p.Gly181Arg
ENST00000700118.1:c.541G>C	ENSP00000514810.1:p.Gly181Arg
ENST00000700119.1:c.*352G>C	ENSP00000514811.1:n.*352G>C
ENST00000700120.1:n.469G>C
ENST00000275034.5:c.541G>C MANE Select	ENSP00000275034.3:p.Gly181Arg
ENST00000275034.4:c.541G>C	ENSP00000275034.3:p.Gly181Arg
NM_017934.5:c.541G>C	NP_060404.3:p.Gly181Arg
XM_005248729.3:c.541G>C	XP_005248786.1:p.Gly181Arg
XM_011535917.1:c.541G>C	XP_011534219.1:p.Gly181Arg
XM_011535918.1:c.25G>C	XP_011534220.1:p.Gly9Arg
XM_011535919.1:c.541G>C	XP_011534221.1:p.Gly181Arg
XR_942499.1:n.767G>C
NM_017934.6:c.541G>C	NP_060404.4:p.Gly181Arg
XM_005248729.5:c.541G>C	XP_005248786.1:p.Gly181Arg
XM_011535918.3:c.25G>C	XP_011534220.1:p.Gly9Arg
XM_017010989.2:c.-1189G>C	XP_016866478.1:n.-1189G>C
XM_017010990.2:c.-1189G>C	XP_016866479.1:n.-1189G>C
NM_017934.7:c.541G>C MANE Select	NP_060404.4:p.Gly181Arg