Canonical Allele Identifier: CA364642977

Gene: PHIP

Linked Data

• MyVariant Identifiers: chr6:g.79752586C>T (hg19) ; chr6:g.79042869C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79042869C>T , CM000668.2:g.79042869C>T	GRCh38
NC_000006.11:g.79752586C>T , CM000668.1:g.79752586C>T	GRCh37
NC_000006.10:g.79809305C>T	NCBI36
NG_051932.1:g.40430G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700012.1:c.592G>A	ENSP00000514753.1:p.Asp198Asn
ENST00000700013.1:c.592G>A	ENSP00000514754.1:p.Asp198Asn
ENST00000700114.1:c.514G>A	ENSP00000514808.1:p.Asp172Asn
ENST00000700115.1:c.574G>A	ENSP00000514809.1:p.Asp192Asn
ENST00000700118.1:c.574G>A	ENSP00000514810.1:p.Asp192Asn
ENST00000700119.1:c.*385G>A	ENSP00000514811.1:n.*385G>A
ENST00000700120.1:n.502G>A
ENST00000275034.5:c.574G>A MANE Select	ENSP00000275034.3:p.Asp192Asn
ENST00000275034.4:c.574G>A	ENSP00000275034.3:p.Asp192Asn
NM_017934.5:c.574G>A	NP_060404.3:p.Asp192Asn
XM_005248729.3:c.574G>A	XP_005248786.1:p.Asp192Asn
XM_011535917.1:c.574G>A	XP_011534219.1:p.Asp192Asn
XM_011535918.1:c.58G>A	XP_011534220.1:p.Asp20Asn
XM_011535919.1:c.574G>A	XP_011534221.1:p.Asp192Asn
XR_942499.1:n.800G>A
NM_017934.6:c.574G>A	NP_060404.4:p.Asp192Asn
XM_005248729.5:c.574G>A	XP_005248786.1:p.Asp192Asn
XM_011535918.3:c.58G>A	XP_011534220.1:p.Asp20Asn
XM_017010989.2:c.-1156G>A	XP_016866478.1:n.-1156G>A
XM_017010990.2:c.-1156G>A	XP_016866479.1:n.-1156G>A
NM_017934.7:c.574G>A MANE Select	NP_060404.4:p.Asp192Asn