Canonical Allele Identifier: CA364643094

Gene: PHIP

Linked Data

• MyVariant Identifiers: chr6:g.79752621A>G (hg19) ; chr6:g.79042904A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79042904A>G , CM000668.2:g.79042904A>G	GRCh38
NC_000006.11:g.79752621A>G , CM000668.1:g.79752621A>G	GRCh37
NC_000006.10:g.79809340A>G	NCBI36
NG_051932.1:g.40395T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000700012.1:c.557T>C	ENSP00000514753.1:p.Leu186Pro
ENST00000700013.1:c.557T>C	ENSP00000514754.1:p.Leu186Pro
ENST00000700114.1:c.479T>C	ENSP00000514808.1:p.Leu160Pro
ENST00000700115.1:c.539T>C	ENSP00000514809.1:p.Leu180Pro
ENST00000700118.1:c.539T>C	ENSP00000514810.1:p.Leu180Pro
ENST00000700119.1:c.*350T>C	ENSP00000514811.1:n.*350T>C
ENST00000700120.1:n.467T>C
ENST00000275034.5:c.539T>C MANE Select	ENSP00000275034.3:p.Leu180Pro
ENST00000275034.4:c.539T>C	ENSP00000275034.3:p.Leu180Pro
NM_017934.5:c.539T>C	NP_060404.3:p.Leu180Pro
XM_005248729.3:c.539T>C	XP_005248786.1:p.Leu180Pro
XM_011535917.1:c.539T>C	XP_011534219.1:p.Leu180Pro
XM_011535918.1:c.23T>C	XP_011534220.1:p.Leu8Pro
XM_011535919.1:c.539T>C	XP_011534221.1:p.Leu180Pro
XR_942499.1:n.765T>C
NM_017934.6:c.539T>C	NP_060404.4:p.Leu180Pro
XM_005248729.5:c.539T>C	XP_005248786.1:p.Leu180Pro
XM_011535918.3:c.23T>C	XP_011534220.1:p.Leu8Pro
XM_017010989.2:c.-1191T>C	XP_016866478.1:n.-1191T>C
XM_017010990.2:c.-1191T>C	XP_016866479.1:n.-1191T>C
NM_017934.7:c.539T>C MANE Select	NP_060404.4:p.Leu180Pro