Canonical Allele Identifier: CA348087698

Gene: NPHP1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.110146800C>T , CM000664.2:g.110146800C>T	GRCh38
NC_000002.11:g.110904377C>T , CM000664.1:g.110904377C>T	GRCh37
NC_000002.10:g.110261666C>T	NCBI36
NG_008287.1:g.63263G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001128178.3:c.1305G>A MANE Select	NP_001121650.1:p.Trp435Ter
ENST00000445609.7:c.1305G>A MANE Select	ENSP00000389879.3:p.Trp435Ter
NM_000272.3:c.1473G>A	NP_000263.2:p.Trp491Ter
NM_000272.4:c.1473G>A	NP_000263.2:p.Trp491Ter
NM_000272.5:c.1473G>A	NP_000263.2:p.Trp491Ter
NM_001128178.1:c.1305G>A	NP_001121650.1:p.Trp435Ter
NM_001128179.1:c.1116G>A	NP_001121651.1:p.Trp372Ter
NM_001128179.2:c.1116G>A	NP_001121651.1:p.Trp372Ter
NM_001128179.3:c.1116G>A	NP_001121651.1:p.Trp372Ter
NM_001374256.1:c.1302G>A	NP_001361185.1:p.Trp434Ter
NM_001374257.1:c.1305G>A	NP_001361186.1:p.Trp435Ter
NM_207181.2:c.1470G>A	NP_997064.2:p.Trp490Ter
NM_207181.3:c.1470G>A	NP_997064.2:p.Trp490Ter
NM_207181.4:c.1470G>A	NP_997064.2:p.Trp490Ter
ENST00000316534.8:c.1473G>A	ENSP00000313169.4:p.Trp491Ter
ENST00000355301.8:c.1116G>A	ENSP00000347452.4:p.Trp372Ter
ENST00000393272.7:c.1470G>A	ENSP00000376953.3:p.Trp490Ter
ENST00000417665.5:c.1302G>A	ENSP00000402176.1:p.Trp434Ter
ENST00000445609.6:c.1305G>A	ENSP00000389879.2:p.Trp435Ter
ENST00000461707.5:n.2890G>A
ENST00000496524.5:n.2906G>A
ENST00000674677.1:c.1350G>A	ENSP00000502265.1:p.Trp450Ter
ENST00000675067.1:c.504G>A	ENSP00000502817.1:p.Trp168Ter
ENST00000675356.1:n.1983G>A
ENST00000675632.1:n.2709G>A
ENST00000675752.1:n.3008G>A
ENST00000676028.1:c.1122G>A	ENSP00000502639.1:p.Trp374Ter
ENST00000676053.1:c.1116G>A	ENSP00000502475.1:p.Trp372Ter
ENST00000676091.1:c.501G>A	ENSP00000502528.1:p.Trp167Ter
ENST00000676165.1:n.2968G>A
ENST00000676258.1:n.2396G>A
XM_005263675.1:c.1470G>A	XP_005263732.1:p.Trp490Ter
XM_005263676.1:c.1305G>A	XP_005263733.1:p.Trp435Ter
XM_005263677.1:c.1302G>A	XP_005263734.1:p.Trp434Ter
XM_005263678.2:c.1473G>A	XP_005263735.1:p.Trp491Ter
XM_005263679.1:c.1302G>A	XP_005263736.1:p.Trp434Ter
XM_006712551.1:c.1473G>A	XP_006712614.1:p.Trp491Ter
XM_011511244.1:c.1473G>A	XP_011509546.1:p.Trp491Ter
XM_017004218.1:c.1305G>A	XP_016859707.1:p.Trp435Ter