Canonical Allele Identifier: CA53511149

Gene: NPHP1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.110160050A>C , CM000664.2:g.110160050A>C	GRCh38
NC_000002.11:g.110917627A>C , CM000664.1:g.110917627A>C	GRCh37
NC_000002.10:g.110274916A>C	NCBI36
NG_008287.1:g.50013T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001128178.3:c.1083+77T>G MANE Select	NP_001121650.1:n.1083+77T>G
ENST00000445609.7:c.1083+77T>G MANE Select	ENSP00000389879.3:n.1083+77T>G
NM_000272.3:c.1251+77T>G	NP_000263.2:n.1251+77T>G
NM_000272.4:c.1251+77T>G	NP_000263.2:n.1251+77T>G
NM_000272.5:c.1251+77T>G	NP_000263.2:n.1251+77T>G
NM_001128178.1:c.1083+77T>G	NP_001121650.1:n.1083+77T>G
NM_001128179.1:c.894+77T>G	NP_001121651.1:n.894+77T>G
NM_001128179.2:c.894+77T>G	NP_001121651.1:n.894+77T>G
NM_001128179.3:c.894+77T>G	NP_001121651.1:n.894+77T>G
NM_001374256.1:c.1080+77T>G	NP_001361185.1:n.1080+77T>G
NM_001374257.1:c.1083+77T>G	NP_001361186.1:n.1083+77T>G
NM_207181.2:c.1248+77T>G	NP_997064.2:n.1248+77T>G
NM_207181.3:c.1248+77T>G	NP_997064.2:n.1248+77T>G
NM_207181.4:c.1248+77T>G	NP_997064.2:n.1248+77T>G
ENST00000316534.8:c.1251+77T>G	ENSP00000313169.4:n.1251+77T>G
ENST00000355301.8:c.894+77T>G	ENSP00000347452.4:n.894+77T>G
ENST00000393272.7:c.1248+77T>G	ENSP00000376953.3:n.1248+77T>G
ENST00000417665.5:c.1080+77T>G	ENSP00000402176.1:n.1080+77T>G
ENST00000445609.6:c.1083+77T>G	ENSP00000389879.2:n.1083+77T>G
ENST00000461707.5:n.2668+77T>G
ENST00000496524.5:n.2684+77T>G
ENST00000674677.1:c.1014+77T>G	ENSP00000502265.1:n.1014+77T>G
ENST00000675067.1:c.282+77T>G	ENSP00000502817.1:n.282+77T>G
ENST00000675356.1:n.1689+77T>G
ENST00000675752.1:n.2786+77T>G
ENST00000676028.1:c.900+77T>G	ENSP00000502639.1:n.900+77T>G
ENST00000676053.1:c.894+77T>G	ENSP00000502475.1:n.894+77T>G
ENST00000676091.1:c.279+77T>G	ENSP00000502528.1:n.279+77T>G
ENST00000676165.1:n.2674+77T>G
ENST00000676258.1:n.2174+77T>G
XM_005263675.1:c.1248+77T>G	XP_005263732.1:n.1248+77T>G
XM_005263676.1:c.1083+77T>G	XP_005263733.1:n.1083+77T>G
XM_005263677.1:c.1080+77T>G	XP_005263734.1:n.1080+77T>G
XM_005263678.2:c.1251+77T>G	XP_005263735.1:n.1251+77T>G
XM_005263679.1:c.1080+77T>G	XP_005263736.1:n.1080+77T>G
XM_006712551.1:c.1251+77T>G	XP_006712614.1:n.1251+77T>G
XM_006712552.2:c.1251+77T>G	XP_006712615.1:n.1251+77T>G
XM_011511244.1:c.1251+77T>G	XP_011509546.1:n.1251+77T>G
XM_017004218.1:c.1083+77T>G	XP_016859707.1:n.1083+77T>G