Canonical Allele Identifier: CA364643149

Gene: PHIP

Linked Data

• MyVariant Identifiers: chr6:g.79752636A>C (hg19) ; chr6:g.79042919A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79042919A>C , CM000668.2:g.79042919A>C	GRCh38
NC_000006.11:g.79752636A>C , CM000668.1:g.79752636A>C	GRCh37
NC_000006.10:g.79809355A>C	NCBI36
NG_051932.1:g.40380T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700012.1:c.542T>G	ENSP00000514753.1:p.Met181Arg
ENST00000700013.1:c.542T>G	ENSP00000514754.1:p.Met181Arg
ENST00000700114.1:c.464T>G	ENSP00000514808.1:p.Met155Arg
ENST00000700115.1:c.524T>G	ENSP00000514809.1:p.Met175Arg
ENST00000700118.1:c.524T>G	ENSP00000514810.1:p.Met175Arg
ENST00000700119.1:c.*335T>G	ENSP00000514811.1:n.*335T>G
ENST00000700120.1:n.452T>G
ENST00000275034.5:c.524T>G MANE Select	ENSP00000275034.3:p.Met175Arg
ENST00000275034.4:c.524T>G	ENSP00000275034.3:p.Met175Arg
NM_017934.5:c.524T>G	NP_060404.3:p.Met175Arg
XM_005248729.3:c.524T>G	XP_005248786.1:p.Met175Arg
XM_011535917.1:c.524T>G	XP_011534219.1:p.Met175Arg
XM_011535918.1:c.8T>G	XP_011534220.1:p.Met3Arg
XM_011535919.1:c.524T>G	XP_011534221.1:p.Met175Arg
XR_942499.1:n.750T>G
NM_017934.6:c.524T>G	NP_060404.4:p.Met175Arg
XM_005248729.5:c.524T>G	XP_005248786.1:p.Met175Arg
XM_011535918.3:c.8T>G	XP_011534220.1:p.Met3Arg
XM_017010989.2:c.-1206T>G	XP_016866478.1:n.-1206T>G
XM_017010990.2:c.-1206T>G	XP_016866479.1:n.-1206T>G
NM_017934.7:c.524T>G MANE Select	NP_060404.4:p.Met175Arg