Canonical Allele Identifier: CA348087770

Gene: NPHP1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.110146834G>C , CM000664.2:g.110146834G>C	GRCh38
NC_000002.11:g.110904411G>C , CM000664.1:g.110904411G>C	GRCh37
NC_000002.10:g.110261700G>C	NCBI36
NG_008287.1:g.63229C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001128178.3:c.1271C>G MANE Select	NP_001121650.1:p.Ser424Ter
ENST00000445609.7:c.1271C>G MANE Select	ENSP00000389879.3:p.Ser424Ter
NM_000272.3:c.1439C>G	NP_000263.2:p.Ser480Ter
NM_000272.4:c.1439C>G	NP_000263.2:p.Ser480Ter
NM_000272.5:c.1439C>G	NP_000263.2:p.Ser480Ter
NM_001128178.1:c.1271C>G	NP_001121650.1:p.Ser424Ter
NM_001128179.1:c.1082C>G	NP_001121651.1:p.Ser361Ter
NM_001128179.2:c.1082C>G	NP_001121651.1:p.Ser361Ter
NM_001128179.3:c.1082C>G	NP_001121651.1:p.Ser361Ter
NM_001374256.1:c.1268C>G	NP_001361185.1:p.Ser423Ter
NM_001374257.1:c.1271C>G	NP_001361186.1:p.Ser424Ter
NM_207181.2:c.1436C>G	NP_997064.2:p.Ser479Ter
NM_207181.3:c.1436C>G	NP_997064.2:p.Ser479Ter
NM_207181.4:c.1436C>G	NP_997064.2:p.Ser479Ter
ENST00000316534.8:c.1439C>G	ENSP00000313169.4:p.Ser480Ter
ENST00000355301.8:c.1082C>G	ENSP00000347452.4:p.Ser361Ter
ENST00000393272.7:c.1436C>G	ENSP00000376953.3:p.Ser479Ter
ENST00000417665.5:c.1268C>G	ENSP00000402176.1:p.Ser423Ter
ENST00000445609.6:c.1271C>G	ENSP00000389879.2:p.Ser424Ter
ENST00000461707.5:n.2856C>G
ENST00000496524.5:n.2872C>G
ENST00000674677.1:c.1316C>G	ENSP00000502265.1:p.Ser439Ter
ENST00000675067.1:c.470C>G	ENSP00000502817.1:p.Ser157Ter
ENST00000675356.1:n.1949C>G
ENST00000675632.1:n.2675C>G
ENST00000675752.1:n.2974C>G
ENST00000676028.1:c.1088C>G	ENSP00000502639.1:p.Ser363Ter
ENST00000676053.1:c.1082C>G	ENSP00000502475.1:p.Ser361Ter
ENST00000676091.1:c.467C>G	ENSP00000502528.1:p.Ser156Ter
ENST00000676165.1:n.2934C>G
ENST00000676258.1:n.2362C>G
XM_005263675.1:c.1436C>G	XP_005263732.1:p.Ser479Ter
XM_005263676.1:c.1271C>G	XP_005263733.1:p.Ser424Ter
XM_005263677.1:c.1268C>G	XP_005263734.1:p.Ser423Ter
XM_005263678.2:c.1439C>G	XP_005263735.1:p.Ser480Ter
XM_005263679.1:c.1268C>G	XP_005263736.1:p.Ser423Ter
XM_006712551.1:c.1439C>G	XP_006712614.1:p.Ser480Ter
XM_011511244.1:c.1439C>G	XP_011509546.1:p.Ser480Ter
XM_017004218.1:c.1271C>G	XP_016859707.1:p.Ser424Ter