Canonical Allele Identifier: CA364643371

Gene: PHIP

Linked Data

• ClinVar Variation Id: 1699806
• ClinVar RCV Id: RCV002273663
• dbSNP Id: rs2127760457
• MyVariant Identifiers: chr6:g.79752697G>C (hg19) ; chr6:g.79042980G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79042980G>C , CM000668.2:g.79042980G>C	GRCh38
NC_000006.11:g.79752697G>C , CM000668.1:g.79752697G>C	GRCh37
NC_000006.10:g.79809416G>C	NCBI36
NG_051932.1:g.40319C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700012.1:c.481C>G	ENSP00000514753.1:p.Leu161Val
ENST00000700013.1:c.481C>G	ENSP00000514754.1:p.Leu161Val
ENST00000700114.1:c.403C>G	ENSP00000514808.1:p.Leu135Val
ENST00000700115.1:c.463C>G	ENSP00000514809.1:p.Leu155Val
ENST00000700118.1:c.463C>G	ENSP00000514810.1:p.Leu155Val
ENST00000700119.1:c.*274C>G	ENSP00000514811.1:n.*274C>G
ENST00000700120.1:n.391C>G
ENST00000275034.5:c.463C>G MANE Select	ENSP00000275034.3:p.Leu155Val
ENST00000275034.4:c.463C>G	ENSP00000275034.3:p.Leu155Val
NM_017934.5:c.463C>G	NP_060404.3:p.Leu155Val
XM_005248729.3:c.463C>G	XP_005248786.1:p.Leu155Val
XM_011535917.1:c.463C>G	XP_011534219.1:p.Leu155Val
XM_011535918.1:c.-54C>G	XP_011534220.1:n.-54C>G
XM_011535919.1:c.463C>G	XP_011534221.1:p.Leu155Val
XR_942499.1:n.689C>G
NM_017934.6:c.463C>G	NP_060404.4:p.Leu155Val
XM_005248729.5:c.463C>G	XP_005248786.1:p.Leu155Val
XM_011535918.3:c.-54C>G	XP_011534220.1:n.-54C>G
XM_017010989.2:c.-1267C>G	XP_016866478.1:n.-1267C>G
XM_017010990.2:c.-1267C>G	XP_016866479.1:n.-1267C>G
NM_017934.7:c.463C>G MANE Select	NP_060404.4:p.Leu155Val