Canonical Allele Identifier: CA451020752

Gene: PHIP

Linked Data

• MyVariant Identifiers: chr6:g.79752620A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79042903A>C , CM000668.2:g.79042903A>C	GRCh38
NC_000006.11:g.79752620A>C , CM000668.1:g.79752620A>C	GRCh37
NC_000006.10:g.79809339A>C	NCBI36
NG_051932.1:g.40396T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000700012.1:c.558T>G	ENSP00000514753.1:p.Leu186=
ENST00000700013.1:c.558T>G	ENSP00000514754.1:p.Leu186=
ENST00000700114.1:c.480T>G	ENSP00000514808.1:p.Leu160=
ENST00000700115.1:c.540T>G	ENSP00000514809.1:p.Leu180=
ENST00000700118.1:c.540T>G	ENSP00000514810.1:p.Leu180=
ENST00000700119.1:c.*351T>G	ENSP00000514811.1:n.*351T>G
ENST00000700120.1:n.468T>G
ENST00000275034.5:c.540T>G MANE Select	ENSP00000275034.3:p.Leu180=
ENST00000275034.4:c.540T>G	ENSP00000275034.3:p.Leu180=
NM_017934.5:c.540T>G	NP_060404.3:p.Leu180=
XM_005248729.3:c.540T>G	XP_005248786.1:p.Leu180=
XM_011535917.1:c.540T>G	XP_011534219.1:p.Leu180=
XM_011535918.1:c.24T>G	XP_011534220.1:p.Leu8=
XM_011535919.1:c.540T>G	XP_011534221.1:p.Leu180=
XR_942499.1:n.766T>G
NM_017934.6:c.540T>G	NP_060404.4:p.Leu180=
XM_005248729.5:c.540T>G	XP_005248786.1:p.Leu180=
XM_011535918.3:c.24T>G	XP_011534220.1:p.Leu8=
XM_017010989.2:c.-1190T>G	XP_016866478.1:n.-1190T>G
XM_017010990.2:c.-1190T>G	XP_016866479.1:n.-1190T>G
NM_017934.7:c.540T>G MANE Select	NP_060404.4:p.Leu180=