Canonical Allele Identifier: CA427920283
Community Standard Title: NM_001128178.3(NPHP1):c.1671C>T (p.Thr557=)
Gene: NPHP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.110129231G>A , CM000664.2:g.110129231G>A GRCh38
NC_000002.11:g.110886808G>A , CM000664.1:g.110886808G>A GRCh37
NC_000002.10:g.110244097G>A NCBI36
NG_008287.1:g.80832C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001128178.3:c.1671C>T MANE Select NP_001121650.1:p.Thr557=
ENST00000445609.7:c.1671C>T MANE Select ENSP00000389879.3:p.Thr557=
NM_000272.3:c.1839C>T NP_000263.2:p.Thr613=
NM_000272.4:c.1839C>T NP_000263.2:p.Thr613=
NM_000272.5:c.1839C>T NP_000263.2:p.Thr613=
NM_001128178.1:c.1671C>T NP_001121650.1:p.Thr557=
NM_001128179.1:c.1482C>T NP_001121651.1:p.Thr494=
NM_001128179.2:c.1482C>T NP_001121651.1:p.Thr494=
NM_001128179.3:c.1482C>T NP_001121651.1:p.Thr494=
NM_001374256.1:c.1668C>T NP_001361185.1:p.Thr556=
NM_001374257.1:c.1671C>T NP_001361186.1:p.Thr557=
NM_207181.2:c.1836C>T NP_997064.2:p.Thr612=
NM_207181.3:c.1836C>T NP_997064.2:p.Thr612=
NM_207181.4:c.1836C>T NP_997064.2:p.Thr612=
ENST00000316534.8:c.1839C>T ENSP00000313169.4:p.Thr613=
ENST00000355301.8:c.1482C>T ENSP00000347452.4:p.Thr494=
ENST00000393272.7:c.1836C>T ENSP00000376953.3:p.Thr612=
ENST00000417665.5:c.1668C>T ENSP00000402176.1:p.Thr556=
ENST00000422492.1:c.29C>T
ENST00000445609.6:c.1671C>T ENSP00000389879.2:p.Thr557=
ENST00000461707.5:n.3256C>T
ENST00000493051.1:n.298C>T
ENST00000496524.5:n.4123C>T
ENST00000674677.1:c.1716C>T ENSP00000502265.1:p.Thr572=
ENST00000675067.1:c.870C>T ENSP00000502817.1:p.Thr290=
ENST00000675294.1:n.4347C>T
ENST00000675356.1:n.2349C>T
ENST00000675632.1:n.3075C>T
ENST00000675752.1:n.3374C>T
ENST00000676028.1:c.1488C>T ENSP00000502639.1:p.Thr496=
ENST00000676053.1:c.1482C>T ENSP00000502475.1:p.Thr494=
ENST00000676091.1:c.867C>T ENSP00000502528.1:p.Thr289=
ENST00000676165.1:n.3334C>T
ENST00000676258.1:n.2762C>T
XM_005263675.1:c.1836C>T XP_005263732.1:p.Thr612=
XM_005263676.1:c.1671C>T XP_005263733.1:p.Thr557=
XM_005263677.1:c.1668C>T XP_005263734.1:p.Thr556=
XM_005263678.2:c.1839C>T XP_005263735.1:p.Thr613=
XM_005263679.1:c.1668C>T XP_005263736.1:p.Thr556=
XM_006712551.1:c.1839C>T XP_006712614.1:p.Thr613=
XM_011511244.1:c.1839C>T XP_011509546.1:p.Thr613=
XM_017004218.1:c.1671C>T XP_016859707.1:p.Thr557=