Canonical Allele Identifier: CA348086733

Gene: NPHP1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.110125674C>T , CM000664.2:g.110125674C>T	GRCh38
NC_000002.11:g.110883251C>T , CM000664.1:g.110883251C>T	GRCh37
NC_000002.10:g.110240540C>T	NCBI36
NG_008287.1:g.84389G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001128178.3:c.1724G>A MANE Select	NP_001121650.1:p.Trp575Ter
ENST00000445609.7:c.1724G>A MANE Select	ENSP00000389879.3:p.Trp575Ter
NM_000272.3:c.1892G>A	NP_000263.2:p.Trp631Ter
NM_000272.4:c.1892G>A	NP_000263.2:p.Trp631Ter
NM_000272.5:c.1892G>A	NP_000263.2:p.Trp631Ter
NM_001128178.1:c.1724G>A	NP_001121650.1:p.Trp575Ter
NM_001128179.1:c.1535G>A	NP_001121651.1:p.Trp512Ter
NM_001128179.2:c.1535G>A	NP_001121651.1:p.Trp512Ter
NM_001128179.3:c.1535G>A	NP_001121651.1:p.Trp512Ter
NM_001374256.1:c.1721G>A	NP_001361185.1:p.Trp574Ter
NM_001374257.1:c.1724G>A	NP_001361186.1:p.Trp575Ter
NM_207181.2:c.1889G>A	NP_997064.2:p.Trp630Ter
NM_207181.3:c.1889G>A	NP_997064.2:p.Trp630Ter
NM_207181.4:c.1889G>A	NP_997064.2:p.Trp630Ter
ENST00000316534.8:c.1892G>A	ENSP00000313169.4:p.Trp631Ter
ENST00000355301.8:c.1535G>A	ENSP00000347452.4:p.Trp512Ter
ENST00000393272.7:c.1889G>A	ENSP00000376953.3:p.Trp630Ter
ENST00000417665.5:c.1721G>A	ENSP00000402176.1:p.Trp574Ter
ENST00000422492.1:c.82G>A
ENST00000445609.6:c.1724G>A	ENSP00000389879.2:p.Trp575Ter
ENST00000461707.5:n.3309G>A
ENST00000496524.5:n.7680G>A
ENST00000674677.1:c.1769G>A	ENSP00000502265.1:p.Trp590Ter
ENST00000675067.1:c.923G>A	ENSP00000502817.1:p.Trp308Ter
ENST00000675294.1:n.4400G>A
ENST00000675356.1:n.2402G>A
ENST00000675632.1:n.3128G>A
ENST00000675752.1:n.3427G>A
ENST00000676028.1:c.1541G>A	ENSP00000502639.1:p.Trp514Ter
ENST00000676053.1:c.1535G>A	ENSP00000502475.1:p.Trp512Ter
ENST00000676091.1:c.920G>A	ENSP00000502528.1:p.Trp307Ter
ENST00000676165.1:n.3387G>A
ENST00000676258.1:n.2815G>A
XM_005263675.1:c.1889G>A	XP_005263732.1:p.Trp630Ter
XM_005263676.1:c.1724G>A	XP_005263733.1:p.Trp575Ter
XM_005263677.1:c.1721G>A	XP_005263734.1:p.Trp574Ter
XM_005263678.2:c.1892G>A	XP_005263735.1:p.Trp631Ter
XM_005263679.1:c.1721G>A	XP_005263736.1:p.Trp574Ter
XM_006712551.1:c.1892G>A	XP_006712614.1:p.Trp631Ter
XM_011511244.1:c.1892G>A	XP_011509546.1:p.Trp631Ter
XM_017004218.1:c.1724G>A	XP_016859707.1:p.Trp575Ter