Canonical Allele Identifier: CA53520166

Gene: NPHP1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.110123597A>G , CM000664.2:g.110123597A>G	GRCh38
NC_000002.11:g.110881174A>G , CM000664.1:g.110881174A>G	GRCh37
NC_000002.10:g.110238463A>G	NCBI36
NG_008287.1:g.86466T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001128178.3:c.*194T>C MANE Select	NP_001121650.1:n.*194T>C
ENST00000445609.7:c.*194T>C MANE Select	ENSP00000389879.3:n.*194T>C
NM_000272.3:c.*194T>C	NP_000263.2:n.*194T>C
NM_000272.4:c.*194T>C	NP_000263.2:n.*194T>C
NM_000272.5:c.*194T>C	NP_000263.2:n.*194T>C
NM_001128178.1:c.*194T>C	NP_001121650.1:n.*194T>C
NM_001128179.1:c.*194T>C	NP_001121651.1:n.*194T>C
NM_001128179.2:c.*194T>C	NP_001121651.1:n.*194T>C
NM_001128179.3:c.*194T>C	NP_001121651.1:n.*194T>C
NM_001374256.1:c.*194T>C	NP_001361185.1:n.*194T>C
NM_001374257.1:c.*470T>C	NP_001361186.1:n.*470T>C
NM_207181.2:c.*194T>C	NP_997064.2:n.*194T>C
NM_207181.3:c.*194T>C	NP_997064.2:n.*194T>C
NM_207181.4:c.*194T>C	NP_997064.2:n.*194T>C
ENST00000316534.8:c.*194T>C	ENSP00000313169.4:n.*194T>C
ENST00000393272.7:c.*194T>C	ENSP00000376953.3:n.*194T>C
ENST00000445609.6:c.*194T>C	ENSP00000389879.2:n.*194T>C
ENST00000461707.5:n.3813T>C
ENST00000496524.5:n.9757T>C
ENST00000674677.1:c.3846T>C	ENSP00000502265.1:n.3846T>C
ENST00000675067.1:c.*194T>C	ENSP00000502817.1:n.*194T>C
ENST00000675294.1:n.6477T>C
ENST00000675356.1:n.2906T>C
ENST00000675632.1:n.3632T>C
ENST00000675752.1:n.4066T>C
ENST00000676028.1:c.*194T>C	ENSP00000502639.1:n.*194T>C
ENST00000676053.1:c.*194T>C	ENSP00000502475.1:n.*194T>C
ENST00000676165.1:n.3891T>C
XM_005263675.1:c.*194T>C	XP_005263732.1:n.*194T>C
XM_005263676.1:c.*194T>C	XP_005263733.1:n.*194T>C
XM_005263677.1:c.*194T>C	XP_005263734.1:n.*194T>C
XM_005263678.2:c.*470T>C	XP_005263735.1:n.*470T>C
XM_005263679.1:c.*194T>C	XP_005263736.1:n.*194T>C
XM_006712551.1:c.*194T>C	XP_006712614.1:n.*194T>C
XM_017004218.1:c.*470T>C	XP_016859707.1:n.*470T>C