Canonical Allele Identifier: CA364643406

Gene: PHIP

Linked Data

• MyVariant Identifiers: chr6:g.79752706A>C (hg19) ; chr6:g.79042989A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79042989A>C , CM000668.2:g.79042989A>C	GRCh38
NC_000006.11:g.79752706A>C , CM000668.1:g.79752706A>C	GRCh37
NC_000006.10:g.79809425A>C	NCBI36
NG_051932.1:g.40310T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700012.1:c.472T>G	ENSP00000514753.1:p.Ser158Ala
ENST00000700013.1:c.472T>G	ENSP00000514754.1:p.Ser158Ala
ENST00000700114.1:c.394T>G	ENSP00000514808.1:p.Ser132Ala
ENST00000700115.1:c.454T>G	ENSP00000514809.1:p.Ser152Ala
ENST00000700118.1:c.454T>G	ENSP00000514810.1:p.Ser152Ala
ENST00000700119.1:c.*265T>G	ENSP00000514811.1:n.*265T>G
ENST00000700120.1:n.382T>G
ENST00000275034.5:c.454T>G MANE Select	ENSP00000275034.3:p.Ser152Ala
ENST00000275034.4:c.454T>G	ENSP00000275034.3:p.Ser152Ala
NM_017934.5:c.454T>G	NP_060404.3:p.Ser152Ala
XM_005248729.3:c.454T>G	XP_005248786.1:p.Ser152Ala
XM_011535917.1:c.454T>G	XP_011534219.1:p.Ser152Ala
XM_011535918.1:c.-63T>G	XP_011534220.1:n.-63T>G
XM_011535919.1:c.454T>G	XP_011534221.1:p.Ser152Ala
XR_942499.1:n.680T>G
NM_017934.6:c.454T>G	NP_060404.4:p.Ser152Ala
XM_005248729.5:c.454T>G	XP_005248786.1:p.Ser152Ala
XM_011535918.3:c.-63T>G	XP_011534220.1:n.-63T>G
XM_017010989.2:c.-1276T>G	XP_016866478.1:n.-1276T>G
XM_017010990.2:c.-1276T>G	XP_016866479.1:n.-1276T>G
NM_017934.7:c.454T>G MANE Select	NP_060404.4:p.Ser152Ala