Canonical Allele Identifier: CA53512707

Gene: NPHP1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.110161907T>C , CM000664.2:g.110161907T>C	GRCh38
NC_000002.11:g.110919484T>C , CM000664.1:g.110919484T>C	GRCh37
NC_000002.10:g.110276773T>C	NCBI36
NG_008287.1:g.48156A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001128178.3:c.860-210A>G MANE Select	NP_001121650.1:n.860-210A>G
ENST00000445609.7:c.860-210A>G MANE Select	ENSP00000389879.3:n.860-210A>G
NM_000272.3:c.1028-210A>G	NP_000263.2:n.1028-210A>G
NM_000272.4:c.1028-210A>G	NP_000263.2:n.1028-210A>G
NM_000272.5:c.1028-210A>G	NP_000263.2:n.1028-210A>G
NM_001128178.1:c.860-210A>G	NP_001121650.1:n.860-210A>G
NM_001128179.1:c.671-210A>G	NP_001121651.1:n.671-210A>G
NM_001128179.2:c.671-210A>G	NP_001121651.1:n.671-210A>G
NM_001128179.3:c.671-210A>G	NP_001121651.1:n.671-210A>G
NM_001374256.1:c.857-210A>G	NP_001361185.1:n.857-210A>G
NM_001374257.1:c.860-210A>G	NP_001361186.1:n.860-210A>G
NM_207181.2:c.1025-210A>G	NP_997064.2:n.1025-210A>G
NM_207181.3:c.1025-210A>G	NP_997064.2:n.1025-210A>G
NM_207181.4:c.1025-210A>G	NP_997064.2:n.1025-210A>G
ENST00000316534.8:c.1028-210A>G	ENSP00000313169.4:n.1028-210A>G
ENST00000355301.8:c.671-210A>G	ENSP00000347452.4:n.671-210A>G
ENST00000393272.7:c.1025-210A>G	ENSP00000376953.3:n.1025-210A>G
ENST00000417665.5:c.857-210A>G	ENSP00000402176.1:n.857-210A>G
ENST00000445609.6:c.860-210A>G	ENSP00000389879.2:n.860-210A>G
ENST00000461707.5:n.2445-210A>G
ENST00000496524.5:n.2461-210A>G
ENST00000674677.1:c.791-210A>G	ENSP00000502265.1:n.791-210A>G
ENST00000675067.1:c.59-210A>G	ENSP00000502817.1:n.59-210A>G
ENST00000675356.1:n.1348-210A>G
ENST00000675752.1:n.2445-210A>G
ENST00000676028.1:c.772-1652A>G	ENSP00000502639.1:n.772-1652A>G
ENST00000676053.1:c.671-210A>G	ENSP00000502475.1:n.671-210A>G
ENST00000676091.1:c.151-1652A>G	ENSP00000502528.1:n.151-1652A>G
ENST00000676165.1:n.2451-210A>G
ENST00000676258.1:n.1951-210A>G
XM_005263675.1:c.1025-210A>G	XP_005263732.1:n.1025-210A>G
XM_005263676.1:c.860-210A>G	XP_005263733.1:n.860-210A>G
XM_005263677.1:c.857-210A>G	XP_005263734.1:n.857-210A>G
XM_005263678.2:c.1028-210A>G	XP_005263735.1:n.1028-210A>G
XM_005263679.1:c.857-210A>G	XP_005263736.1:n.857-210A>G
XM_006712551.1:c.1028-210A>G	XP_006712614.1:n.1028-210A>G
XM_006712552.2:c.1028-210A>G	XP_006712615.1:n.1028-210A>G
XM_011511244.1:c.1028-210A>G	XP_011509546.1:n.1028-210A>G
XM_017004218.1:c.860-210A>G	XP_016859707.1:n.860-210A>G