Canonical Allele Identifier: CA348086755

Gene: NPHP1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.110129185C>A , CM000664.2:g.110129185C>A	GRCh38
NC_000002.11:g.110886762C>A , CM000664.1:g.110886762C>A	GRCh37
NC_000002.10:g.110244051C>A	NCBI36
NG_008287.1:g.80878G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001128178.3:c.1716+1G>T MANE Select	NP_001121650.1:n.1716+1G>T
ENST00000445609.7:c.1716+1G>T MANE Select	ENSP00000389879.3:n.1716+1G>T
NM_000272.3:c.1884+1G>T	NP_000263.2:n.1884+1G>T
NM_000272.4:c.1884+1G>T	NP_000263.2:n.1884+1G>T
NM_000272.5:c.1884+1G>T	NP_000263.2:n.1884+1G>T
NM_001128178.1:c.1716+1G>T	NP_001121650.1:n.1716+1G>T
NM_001128179.1:c.1527+1G>T	NP_001121651.1:n.1527+1G>T
NM_001128179.2:c.1527+1G>T	NP_001121651.1:n.1527+1G>T
NM_001128179.3:c.1527+1G>T	NP_001121651.1:n.1527+1G>T
NM_001374256.1:c.1713+1G>T	NP_001361185.1:n.1713+1G>T
NM_001374257.1:c.1716+1G>T	NP_001361186.1:n.1716+1G>T
NM_207181.2:c.1881+1G>T	NP_997064.2:n.1881+1G>T
NM_207181.3:c.1881+1G>T	NP_997064.2:n.1881+1G>T
NM_207181.4:c.1881+1G>T	NP_997064.2:n.1881+1G>T
ENST00000316534.8:c.1884+1G>T	ENSP00000313169.4:n.1884+1G>T
ENST00000355301.8:c.1527+1G>T	ENSP00000347452.4:n.1527+1G>T
ENST00000393272.7:c.1881+1G>T	ENSP00000376953.3:n.1881+1G>T
ENST00000417665.5:c.1713+1G>T	ENSP00000402176.1:n.1713+1G>T
ENST00000422492.1:c.74+1G>T
ENST00000445609.6:c.1716+1G>T	ENSP00000389879.2:n.1716+1G>T
ENST00000461707.5:n.3301+1G>T
ENST00000493051.1:n.344G>T
ENST00000496524.5:n.4169G>T
ENST00000674677.1:c.1761+1G>T	ENSP00000502265.1:n.1761+1G>T
ENST00000675067.1:c.915+1G>T	ENSP00000502817.1:n.915+1G>T
ENST00000675294.1:n.4392+1G>T
ENST00000675356.1:n.2394+1G>T
ENST00000675632.1:n.3120+1G>T
ENST00000675752.1:n.3419+1G>T
ENST00000676028.1:c.1533+1G>T	ENSP00000502639.1:n.1533+1G>T
ENST00000676053.1:c.1527+1G>T	ENSP00000502475.1:n.1527+1G>T
ENST00000676091.1:c.912+1G>T	ENSP00000502528.1:n.912+1G>T
ENST00000676165.1:n.3379+1G>T
ENST00000676258.1:n.2807+1G>T
XM_005263675.1:c.1881+1G>T	XP_005263732.1:n.1881+1G>T
XM_005263676.1:c.1716+1G>T	XP_005263733.1:n.1716+1G>T
XM_005263677.1:c.1713+1G>T	XP_005263734.1:n.1713+1G>T
XM_005263678.2:c.1884+1G>T	XP_005263735.1:n.1884+1G>T
XM_005263679.1:c.1713+1G>T	XP_005263736.1:n.1713+1G>T
XM_006712551.1:c.1884+1G>T	XP_006712614.1:n.1884+1G>T
XM_011511244.1:c.1884+1G>T	XP_011509546.1:n.1884+1G>T
XM_017004218.1:c.1716+1G>T	XP_016859707.1:n.1716+1G>T