Canonical Allele Identifier: CA145973

Gene: NPHP1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.110201431T>G , CM000664.2:g.110201431T>G	GRCh38
NC_000002.11:g.110959008T>G , CM000664.1:g.110959008T>G	GRCh37
NC_000002.10:g.110316297T>G	NCBI36
NG_008287.1:g.8632A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000445609.7:c.133A>C MANE Select	ENSP00000389879.3:p.Ile45Leu
ENST00000674677.1:c.64A>C	ENSP00000502265.1:p.Ile22Leu
ENST00000675067.1:c.-2211+3469A>C	ENSP00000502817.1:n.-2211+3469A>C
ENST00000675356.1:n.172A>C
ENST00000675752.1:n.148A>C
ENST00000676028.1:c.133A>C	ENSP00000502639.1:p.Ile45Leu
ENST00000676053.1:c.133A>C	ENSP00000502475.1:p.Ile45Leu
ENST00000676165.1:n.172A>C
ENST00000676258.1:n.148A>C
ENST00000316534.8:c.133A>C	ENSP00000313169.4:p.Ile45Leu
ENST00000355301.8:c.133A>C	ENSP00000347452.4:p.Ile45Leu
ENST00000393272.7:c.133A>C	ENSP00000376953.3:p.Ile45Leu
ENST00000417665.5:c.133A>C	ENSP00000402176.1:p.Ile45Leu
ENST00000418527.1:c.133A>C	ENSP00000412351.1:p.Ile45Leu
ENST00000445609.6:c.133A>C	ENSP00000389879.2:p.Ile45Leu
ENST00000449600.1:c.233A>C
ENST00000461707.5:n.166A>C
ENST00000496524.5:n.182A>C
NM_000272.3:c.133A>C	NP_000263.2:p.Ile45Leu
NM_001128178.1:c.133A>C	NP_001121650.1:p.Ile45Leu
NM_001128179.1:c.133A>C	NP_001121651.1:p.Ile45Leu
NM_207181.2:c.133A>C	NP_997064.2:p.Ile45Leu
XM_005263675.1:c.133A>C	XP_005263732.1:p.Ile45Leu
XM_005263676.1:c.133A>C	XP_005263733.1:p.Ile45Leu
XM_005263677.1:c.133A>C	XP_005263734.1:p.Ile45Leu
XM_005263678.2:c.133A>C	XP_005263735.1:p.Ile45Leu
XM_005263679.1:c.133A>C	XP_005263736.1:p.Ile45Leu
XM_006712551.1:c.133A>C	XP_006712614.1:p.Ile45Leu
XM_006712552.2:c.133A>C	XP_006712615.1:p.Ile45Leu
XM_011511244.1:c.133A>C	XP_011509546.1:p.Ile45Leu
XM_017004218.1:c.133A>C	XP_016859707.1:p.Ile45Leu
NM_000272.4:c.133A>C	NP_000263.2:p.Ile45Leu
NM_001128178.3:c.133A>C MANE Select	NP_001121650.1:p.Ile45Leu
NM_001128179.2:c.133A>C	NP_001121651.1:p.Ile45Leu
NM_001374256.1:c.133A>C	NP_001361185.1:p.Ile45Leu
NM_001374257.1:c.133A>C	NP_001361186.1:p.Ile45Leu
NM_207181.3:c.133A>C	NP_997064.2:p.Ile45Leu
NM_000272.5:c.133A>C	NP_000263.2:p.Ile45Leu
NM_001128179.3:c.133A>C	NP_001121651.1:p.Ile45Leu
NM_207181.4:c.133A>C	NP_997064.2:p.Ile45Leu