Canonical Allele Identifier: CA658657605

Gene: PHIP IRAK1BP1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.78970896A>C , CM000668.2:g.78970896A>C	GRCh38
NC_000006.11:g.79680613A>C , CM000668.1:g.79680613A>C	GRCh37
NC_000006.10:g.79737332A>C	NCBI36
NG_051932.1:g.112403T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_017934.7:c.2890-8T>G (PHIP) MANE Select	NP_060404.4:n.2890-8T>G
ENST00000275034.5:c.2890-8T>G (PHIP) MANE Select	ENSP00000275034.3:n.2890-8T>G
NM_017934.5:c.2890-8T>G (PHIP)	NP_060404.3:n.2890-8T>G
NM_017934.6:c.2890-8T>G (PHIP)	NP_060404.4:n.2890-8T>G
ENST00000275034.4:c.2890-8T>G (PHIP)	ENSP00000275034.3:n.2890-8T>G
ENST00000479165.1:n.179-8T>G (PHIP)
ENST00000700013.1:c.2908-8T>G (PHIP)	ENSP00000514754.1:n.2908-8T>G
ENST00000700114.1:c.2830-8T>G (PHIP)	ENSP00000514808.1:n.2830-8T>G
ENST00000700115.1:c.2887-8T>G (PHIP)	ENSP00000514809.1:n.2887-8T>G
ENST00000700118.1:c.2929-8T>G (PHIP)	ENSP00000514810.1:n.2929-8T>G
ENST00000700172.1:n.320-8T>G (PHIP)
XM_005248729.3:c.2887-8T>G (PHIP)	XP_005248786.1:n.2887-8T>G
XM_005248729.5:c.2887-8T>G (PHIP)	XP_005248786.1:n.2887-8T>G
XM_011535917.1:c.2890-8T>G (PHIP)	XP_011534219.1:n.2890-8T>G
XM_011535918.1:c.2374-8T>G (PHIP)	XP_011534220.1:n.2374-8T>G
XM_011535918.3:c.2374-8T>G (PHIP)	XP_011534220.1:n.2374-8T>G
XM_011535919.1:c.2890-8T>G (PHIP)	XP_011534221.1:n.2890-8T>G
XM_017010989.2:c.1225-8T>G (PHIP)	XP_016866478.1:n.1225-8T>G
XM_017010990.2:c.1225-8T>G (PHIP)	XP_016866479.1:n.1225-8T>G
XR_001743162.1:n.818-8237A>C (IRAK1BP1)
XR_942499.1:n.3116-8T>G (PHIP)