Canonical Allele Identifier: CA364638109

Gene: PHIP IRAK1BP1

Linked Data

• ClinVar Variation Id: 450225
• ClinVar RCV Id: RCV000519154 ; RCV002464241
• dbSNP Id: rs1554194287
• MyVariant Identifiers: chr6:g.79655946G>A (hg19) ; chr6:g.78946229G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.78946229G>A , CM000668.2:g.78946229G>A	GRCh38
NC_000006.11:g.79655946G>A , CM000668.1:g.79655946G>A	GRCh37
NC_000006.10:g.79712665G>A	NCBI36
NG_051932.1:g.137070C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000700013.1:c.4420C>T (PHIP)	ENSP00000514754.1:p.Gln1474Ter
ENST00000700114.1:c.4342C>T (PHIP)	ENSP00000514808.1:p.Gln1448Ter
ENST00000700115.1:c.4399C>T (PHIP)	ENSP00000514809.1:p.Gln1467Ter
ENST00000700116.1:n.2601C>T (PHIP)
ENST00000700118.1:c.4441C>T (PHIP)	ENSP00000514810.1:p.Gln1481Ter
ENST00000700170.1:n.1050C>T (PHIP)
ENST00000700171.1:c.424C>T (PHIP)
ENST00000275034.5:c.4402C>T (PHIP) MANE Select	ENSP00000275034.3:p.Gln1468Ter
ENST00000275034.4:c.4402C>T (PHIP)	ENSP00000275034.3:p.Gln1468Ter
ENST00000479165.1:n.4483C>T (PHIP)
ENST00000606868.5:c.1423G>A (IRAK1BP1)	ENSP00000475570.1:n.1423G>A
NM_017934.5:c.4402C>T (PHIP)	NP_060404.3:p.Gln1468Ter
XM_005248729.3:c.4399C>T (PHIP)	XP_005248786.1:p.Gln1467Ter
XM_011535917.1:c.4249C>T (PHIP)	XP_011534219.1:p.Gln1417Ter
XM_011535918.1:c.3886C>T (PHIP)	XP_011534220.1:p.Gln1296Ter
XR_942499.1:n.4698C>T (PHIP)
NM_017934.6:c.4402C>T (PHIP)	NP_060404.4:p.Gln1468Ter
XM_005248729.5:c.4399C>T (PHIP)	XP_005248786.1:p.Gln1467Ter
XM_011535918.3:c.3886C>T (PHIP)	XP_011534220.1:p.Gln1296Ter
XM_017010989.2:c.2737C>T (PHIP)	XP_016866478.1:p.Gln913Ter
XM_017010990.2:c.2737C>T (PHIP)	XP_016866479.1:p.Gln913Ter
XR_001743162.1:n.817+10660G>A (IRAK1BP1)
NM_017934.7:c.4402C>T (PHIP) MANE Select	NP_060404.4:p.Gln1468Ter