Canonical Allele Identifier: CA1826831

Gene: NPHP1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.110123807C>T , CM000664.2:g.110123807C>T	GRCh38
NC_000002.11:g.110881384C>T , CM000664.1:g.110881384C>T	GRCh37
NC_000002.10:g.110238673C>T	NCBI36
NG_008287.1:g.86256G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000445609.7:c.2018G>A MANE Select	ENSP00000389879.3:p.Arg673Lys
ENST00000674677.1:c.3636G>A	ENSP00000502265.1:n.3636G>A
ENST00000675067.1:c.1217G>A	ENSP00000502817.1:p.Arg406Lys
ENST00000675294.1:n.6267G>A
ENST00000675356.1:n.2696G>A
ENST00000675632.1:n.3422G>A
ENST00000675752.1:n.3856G>A
ENST00000676028.1:c.1835G>A	ENSP00000502639.1:p.Arg612Lys
ENST00000676053.1:c.1829G>A	ENSP00000502475.1:p.Arg610Lys
ENST00000676091.1:c.1214G>A	ENSP00000502528.1:p.Arg405Lys
ENST00000676165.1:n.3681G>A
ENST00000316534.8:c.2186G>A	ENSP00000313169.4:p.Arg729Lys
ENST00000355301.8:c.1829G>A	ENSP00000347452.4:p.Arg610Lys
ENST00000393272.7:c.2183G>A	ENSP00000376953.3:p.Arg728Lys
ENST00000417665.5:c.2120G>A	ENSP00000402176.1:p.Arg707Lys
ENST00000445609.6:c.2018G>A	ENSP00000389879.2:p.Arg673Lys
ENST00000461707.5:n.3603G>A
ENST00000496524.5:n.9547G>A
NM_000272.3:c.2186G>A	NP_000263.2:p.Arg729Lys
NM_001128178.1:c.2018G>A	NP_001121650.1:p.Arg673Lys
NM_001128179.1:c.1829G>A	NP_001121651.1:p.Arg610Lys
NM_207181.2:c.2183G>A	NP_997064.2:p.Arg728Lys
XM_005263675.1:c.2288G>A	XP_005263732.1:p.Arg763Lys
XM_005263676.1:c.2123G>A	XP_005263733.1:p.Arg708Lys
XM_005263677.1:c.2120G>A	XP_005263734.1:p.Arg707Lys
XM_005263678.2:c.*260G>A	XP_005263735.1:n.*260G>A
XM_005263679.1:c.2015G>A	XP_005263736.1:p.Arg672Lys
XM_006712551.1:c.2291G>A	XP_006712614.1:p.Arg764Lys
XM_017004218.1:c.*260G>A	XP_016859707.1:n.*260G>A
NM_000272.4:c.2186G>A	NP_000263.2:p.Arg729Lys
NM_001128178.3:c.2018G>A MANE Select	NP_001121650.1:p.Arg673Lys
NM_001128179.2:c.1829G>A	NP_001121651.1:p.Arg610Lys
NM_001374256.1:c.2015G>A	NP_001361185.1:p.Arg672Lys
NM_001374257.1:c.*260G>A	NP_001361186.1:n.*260G>A
NM_207181.3:c.2183G>A	NP_997064.2:p.Arg728Lys
NM_000272.5:c.2186G>A	NP_000263.2:p.Arg729Lys
NM_001128179.3:c.1829G>A	NP_001121651.1:p.Arg610Lys
NM_207181.4:c.2183G>A	NP_997064.2:p.Arg728Lys