Canonical Allele Identifier: CA364643122

Gene: PHIP

Linked Data

• MyVariant Identifiers: chr6:g.79752630T>G (hg19) ; chr6:g.79042913T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79042913T>G , CM000668.2:g.79042913T>G	GRCh38
NC_000006.11:g.79752630T>G , CM000668.1:g.79752630T>G	GRCh37
NC_000006.10:g.79809349T>G	NCBI36
NG_051932.1:g.40386A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700012.1:c.548A>C	ENSP00000514753.1:p.Lys183Thr
ENST00000700013.1:c.548A>C	ENSP00000514754.1:p.Lys183Thr
ENST00000700114.1:c.470A>C	ENSP00000514808.1:p.Lys157Thr
ENST00000700115.1:c.530A>C	ENSP00000514809.1:p.Lys177Thr
ENST00000700118.1:c.530A>C	ENSP00000514810.1:p.Lys177Thr
ENST00000700119.1:c.*341A>C	ENSP00000514811.1:n.*341A>C
ENST00000700120.1:n.458A>C
ENST00000275034.5:c.530A>C MANE Select	ENSP00000275034.3:p.Lys177Thr
ENST00000275034.4:c.530A>C	ENSP00000275034.3:p.Lys177Thr
NM_017934.5:c.530A>C	NP_060404.3:p.Lys177Thr
XM_005248729.3:c.530A>C	XP_005248786.1:p.Lys177Thr
XM_011535917.1:c.530A>C	XP_011534219.1:p.Lys177Thr
XM_011535918.1:c.14A>C	XP_011534220.1:p.Lys5Thr
XM_011535919.1:c.530A>C	XP_011534221.1:p.Lys177Thr
XR_942499.1:n.756A>C
NM_017934.6:c.530A>C	NP_060404.4:p.Lys177Thr
XM_005248729.5:c.530A>C	XP_005248786.1:p.Lys177Thr
XM_011535918.3:c.14A>C	XP_011534220.1:p.Lys5Thr
XM_017010989.2:c.-1200A>C	XP_016866478.1:n.-1200A>C
XM_017010990.2:c.-1200A>C	XP_016866479.1:n.-1200A>C
NM_017934.7:c.530A>C MANE Select	NP_060404.4:p.Lys177Thr