Canonical Allele Identifier: CA348086119

Gene: NPHP1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.110123939C>T , CM000664.2:g.110123939C>T	GRCh38
NC_000002.11:g.110881516C>T , CM000664.1:g.110881516C>T	GRCh37
NC_000002.10:g.110238805C>T	NCBI36
NG_008287.1:g.86124G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001128178.3:c.1886G>A MANE Select	NP_001121650.1:p.Trp629Ter
ENST00000445609.7:c.1886G>A MANE Select	ENSP00000389879.3:p.Trp629Ter
NM_000272.3:c.2054G>A	NP_000263.2:p.Trp685Ter
NM_000272.4:c.2054G>A	NP_000263.2:p.Trp685Ter
NM_000272.5:c.2054G>A	NP_000263.2:p.Trp685Ter
NM_001128178.1:c.1886G>A	NP_001121650.1:p.Trp629Ter
NM_001128179.1:c.1697G>A	NP_001121651.1:p.Trp566Ter
NM_001128179.2:c.1697G>A	NP_001121651.1:p.Trp566Ter
NM_001128179.3:c.1697G>A	NP_001121651.1:p.Trp566Ter
NM_001374256.1:c.1883G>A	NP_001361185.1:p.Trp628Ter
NM_001374257.1:c.*128G>A	NP_001361186.1:n.*128G>A
NM_207181.2:c.2051G>A	NP_997064.2:p.Trp684Ter
NM_207181.3:c.2051G>A	NP_997064.2:p.Trp684Ter
NM_207181.4:c.2051G>A	NP_997064.2:p.Trp684Ter
ENST00000316534.8:c.2054G>A	ENSP00000313169.4:p.Trp685Ter
ENST00000355301.8:c.1697G>A	ENSP00000347452.4:p.Trp566Ter
ENST00000393272.7:c.2051G>A	ENSP00000376953.3:p.Trp684Ter
ENST00000417665.5:c.1988G>A	ENSP00000402176.1:p.Trp663Ter
ENST00000445609.6:c.1886G>A	ENSP00000389879.2:p.Trp629Ter
ENST00000461707.5:n.3471G>A
ENST00000496524.5:n.9415G>A
ENST00000674677.1:c.3504G>A	ENSP00000502265.1:n.3504G>A
ENST00000675067.1:c.1085G>A	ENSP00000502817.1:p.Trp362Ter
ENST00000675294.1:n.6135G>A
ENST00000675356.1:n.2564G>A
ENST00000675632.1:n.3290G>A
ENST00000675752.1:n.3724G>A
ENST00000676028.1:c.1703G>A	ENSP00000502639.1:p.Trp568Ter
ENST00000676053.1:c.1697G>A	ENSP00000502475.1:p.Trp566Ter
ENST00000676091.1:c.1082G>A	ENSP00000502528.1:p.Trp361Ter
ENST00000676165.1:n.3549G>A
ENST00000676258.1:n.3112G>A
XM_005263675.1:c.2156G>A	XP_005263732.1:p.Trp719Ter
XM_005263676.1:c.1991G>A	XP_005263733.1:p.Trp664Ter
XM_005263677.1:c.1988G>A	XP_005263734.1:p.Trp663Ter
XM_005263678.2:c.*128G>A	XP_005263735.1:n.*128G>A
XM_005263679.1:c.1883G>A	XP_005263736.1:p.Trp628Ter
XM_006712551.1:c.2159G>A	XP_006712614.1:p.Trp720Ter
XM_017004218.1:c.*128G>A	XP_016859707.1:n.*128G>A