Canonical Allele Identifier: CA364643403

Gene: PHIP

Linked Data

• gnomAD v4: 6-79042988-G-A
• MyVariant Identifiers: chr6:g.79752705G>A (hg19) ; chr6:g.79042988G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79042988G>A , CM000668.2:g.79042988G>A	GRCh38
NC_000006.11:g.79752705G>A , CM000668.1:g.79752705G>A	GRCh37
NC_000006.10:g.79809424G>A	NCBI36
NG_051932.1:g.40311C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700012.1:c.473C>T	ENSP00000514753.1:p.Ser158Leu
ENST00000700013.1:c.473C>T	ENSP00000514754.1:p.Ser158Leu
ENST00000700114.1:c.395C>T	ENSP00000514808.1:p.Ser132Leu
ENST00000700115.1:c.455C>T	ENSP00000514809.1:p.Ser152Leu
ENST00000700118.1:c.455C>T	ENSP00000514810.1:p.Ser152Leu
ENST00000700119.1:c.*266C>T	ENSP00000514811.1:n.*266C>T
ENST00000700120.1:n.383C>T
ENST00000275034.5:c.455C>T MANE Select	ENSP00000275034.3:p.Ser152Leu
ENST00000275034.4:c.455C>T	ENSP00000275034.3:p.Ser152Leu
NM_017934.5:c.455C>T	NP_060404.3:p.Ser152Leu
XM_005248729.3:c.455C>T	XP_005248786.1:p.Ser152Leu
XM_011535917.1:c.455C>T	XP_011534219.1:p.Ser152Leu
XM_011535918.1:c.-62C>T	XP_011534220.1:n.-62C>T
XM_011535919.1:c.455C>T	XP_011534221.1:p.Ser152Leu
XR_942499.1:n.681C>T
NM_017934.6:c.455C>T	NP_060404.4:p.Ser152Leu
XM_005248729.5:c.455C>T	XP_005248786.1:p.Ser152Leu
XM_011535918.3:c.-62C>T	XP_011534220.1:n.-62C>T
XM_017010989.2:c.-1275C>T	XP_016866478.1:n.-1275C>T
XM_017010990.2:c.-1275C>T	XP_016866479.1:n.-1275C>T
NM_017934.7:c.455C>T MANE Select	NP_060404.4:p.Ser152Leu