Canonical Allele Identifier: CA1827178

Gene: NPHP1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.110161675G>T , CM000664.2:g.110161675G>T	GRCh38
NC_000002.11:g.110919252G>T , CM000664.1:g.110919252G>T	GRCh37
NC_000002.10:g.110276541G>T	NCBI36
NG_008287.1:g.48388C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001128178.3:c.882C>A MANE Select	NP_001121650.1:p.Tyr294Ter
ENST00000445609.7:c.882C>A MANE Select	ENSP00000389879.3:p.Tyr294Ter
NM_000272.3:c.1050C>A	NP_000263.2:p.Tyr350Ter
NM_000272.4:c.1050C>A	NP_000263.2:p.Tyr350Ter
NM_000272.5:c.1050C>A	NP_000263.2:p.Tyr350Ter
NM_001128178.1:c.882C>A	NP_001121650.1:p.Tyr294Ter
NM_001128179.1:c.693C>A	NP_001121651.1:p.Tyr231Ter
NM_001128179.2:c.693C>A	NP_001121651.1:p.Tyr231Ter
NM_001128179.3:c.693C>A	NP_001121651.1:p.Tyr231Ter
NM_001374256.1:c.879C>A	NP_001361185.1:p.Tyr293Ter
NM_001374257.1:c.882C>A	NP_001361186.1:p.Tyr294Ter
NM_207181.2:c.1047C>A	NP_997064.2:p.Tyr349Ter
NM_207181.3:c.1047C>A	NP_997064.2:p.Tyr349Ter
NM_207181.4:c.1047C>A	NP_997064.2:p.Tyr349Ter
ENST00000316534.8:c.1050C>A	ENSP00000313169.4:p.Tyr350Ter
ENST00000355301.8:c.693C>A	ENSP00000347452.4:p.Tyr231Ter
ENST00000393272.7:c.1047C>A	ENSP00000376953.3:p.Tyr349Ter
ENST00000417665.5:c.879C>A	ENSP00000402176.1:p.Tyr293Ter
ENST00000445609.6:c.882C>A	ENSP00000389879.2:p.Tyr294Ter
ENST00000461707.5:n.2467C>A
ENST00000496524.5:n.2483C>A
ENST00000674677.1:c.813C>A	ENSP00000502265.1:p.Tyr271Ter
ENST00000675067.1:c.81C>A	ENSP00000502817.1:p.Tyr27Ter
ENST00000675356.1:n.1370C>A
ENST00000675752.1:n.2467C>A
ENST00000676028.1:c.772-1420C>A	ENSP00000502639.1:n.772-1420C>A
ENST00000676053.1:c.693C>A	ENSP00000502475.1:p.Tyr231Ter
ENST00000676091.1:c.151-1420C>A	ENSP00000502528.1:n.151-1420C>A
ENST00000676165.1:n.2473C>A
ENST00000676258.1:n.1973C>A
XM_005263675.1:c.1047C>A	XP_005263732.1:p.Tyr349Ter
XM_005263676.1:c.882C>A	XP_005263733.1:p.Tyr294Ter
XM_005263677.1:c.879C>A	XP_005263734.1:p.Tyr293Ter
XM_005263678.2:c.1050C>A	XP_005263735.1:p.Tyr350Ter
XM_005263679.1:c.879C>A	XP_005263736.1:p.Tyr293Ter
XM_006712551.1:c.1050C>A	XP_006712614.1:p.Tyr350Ter
XM_006712552.2:c.1050C>A	XP_006712615.1:p.Tyr350Ter
XM_011511244.1:c.1050C>A	XP_011509546.1:p.Tyr350Ter
XM_017004218.1:c.882C>A	XP_016859707.1:p.Tyr294Ter