Canonical Allele Identifier: CA348086927

Gene: NPHP1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.110129261T>C , CM000664.2:g.110129261T>C	GRCh38
NC_000002.11:g.110886838T>C , CM000664.1:g.110886838T>C	GRCh37
NC_000002.10:g.110244127T>C	NCBI36
NG_008287.1:g.80802A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001128178.3:c.1643-2A>G MANE Select	NP_001121650.1:n.1643-2A>G
ENST00000445609.7:c.1643-2A>G MANE Select	ENSP00000389879.3:n.1643-2A>G
NM_000272.3:c.1811-2A>G	NP_000263.2:n.1811-2A>G
NM_000272.4:c.1811-2A>G	NP_000263.2:n.1811-2A>G
NM_000272.5:c.1811-2A>G	NP_000263.2:n.1811-2A>G
NM_001128178.1:c.1643-2A>G	NP_001121650.1:n.1643-2A>G
NM_001128179.1:c.1454-2A>G	NP_001121651.1:n.1454-2A>G
NM_001128179.2:c.1454-2A>G	NP_001121651.1:n.1454-2A>G
NM_001128179.3:c.1454-2A>G	NP_001121651.1:n.1454-2A>G
NM_001374256.1:c.1640-2A>G	NP_001361185.1:n.1640-2A>G
NM_001374257.1:c.1643-2A>G	NP_001361186.1:n.1643-2A>G
NM_207181.2:c.1808-2A>G	NP_997064.2:n.1808-2A>G
NM_207181.3:c.1808-2A>G	NP_997064.2:n.1808-2A>G
NM_207181.4:c.1808-2A>G	NP_997064.2:n.1808-2A>G
ENST00000316534.8:c.1811-2A>G	ENSP00000313169.4:n.1811-2A>G
ENST00000355301.8:c.1454-2A>G	ENSP00000347452.4:n.1454-2A>G
ENST00000393272.7:c.1808-2A>G	ENSP00000376953.3:n.1808-2A>G
ENST00000417665.5:c.1640-2A>G	ENSP00000402176.1:n.1640-2A>G
ENST00000445609.6:c.1643-2A>G	ENSP00000389879.2:n.1643-2A>G
ENST00000461707.5:n.3228-2A>G
ENST00000493051.1:n.270-2A>G
ENST00000496524.5:n.4095-2A>G
ENST00000674677.1:c.1688-2A>G	ENSP00000502265.1:n.1688-2A>G
ENST00000675067.1:c.842-2A>G	ENSP00000502817.1:n.842-2A>G
ENST00000675294.1:n.4317A>G
ENST00000675356.1:n.2321-2A>G
ENST00000675632.1:n.3047-2A>G
ENST00000675752.1:n.3346-2A>G
ENST00000676028.1:c.1460-2A>G	ENSP00000502639.1:n.1460-2A>G
ENST00000676053.1:c.1454-2A>G	ENSP00000502475.1:n.1454-2A>G
ENST00000676091.1:c.839-2A>G	ENSP00000502528.1:n.839-2A>G
ENST00000676165.1:n.3306-2A>G
ENST00000676258.1:n.2734-2A>G
XM_005263675.1:c.1808-2A>G	XP_005263732.1:n.1808-2A>G
XM_005263676.1:c.1643-2A>G	XP_005263733.1:n.1643-2A>G
XM_005263677.1:c.1640-2A>G	XP_005263734.1:n.1640-2A>G
XM_005263678.2:c.1811-2A>G	XP_005263735.1:n.1811-2A>G
XM_005263679.1:c.1640-2A>G	XP_005263736.1:n.1640-2A>G
XM_006712551.1:c.1811-2A>G	XP_006712614.1:n.1811-2A>G
XM_011511244.1:c.1811-2A>G	XP_011509546.1:n.1811-2A>G
XM_017004218.1:c.1643-2A>G	XP_016859707.1:n.1643-2A>G