Canonical Allele Identifier: CA348090606

Gene: NPHP1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.110163065G>C , CM000664.2:g.110163065G>C	GRCh38
NC_000002.11:g.110920642G>C , CM000664.1:g.110920642G>C	GRCh37
NC_000002.10:g.110277931G>C	NCBI36
NG_008287.1:g.46998C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001128178.3:c.842C>G MANE Select	NP_001121650.1:p.Ser281Ter
ENST00000445609.7:c.842C>G MANE Select	ENSP00000389879.3:p.Ser281Ter
NM_000272.3:c.1010C>G	NP_000263.2:p.Ser337Ter
NM_000272.4:c.1010C>G	NP_000263.2:p.Ser337Ter
NM_000272.5:c.1010C>G	NP_000263.2:p.Ser337Ter
NM_001128178.1:c.842C>G	NP_001121650.1:p.Ser281Ter
NM_001128179.1:c.653C>G	NP_001121651.1:p.Ser218Ter
NM_001128179.2:c.653C>G	NP_001121651.1:p.Ser218Ter
NM_001128179.3:c.653C>G	NP_001121651.1:p.Ser218Ter
NM_001374256.1:c.839C>G	NP_001361185.1:p.Ser280Ter
NM_001374257.1:c.842C>G	NP_001361186.1:p.Ser281Ter
NM_207181.2:c.1007C>G	NP_997064.2:p.Ser336Ter
NM_207181.3:c.1007C>G	NP_997064.2:p.Ser336Ter
NM_207181.4:c.1007C>G	NP_997064.2:p.Ser336Ter
ENST00000316534.8:c.1010C>G	ENSP00000313169.4:p.Ser337Ter
ENST00000355301.8:c.653C>G	ENSP00000347452.4:p.Ser218Ter
ENST00000393272.7:c.1007C>G	ENSP00000376953.3:p.Ser336Ter
ENST00000417665.5:c.839C>G	ENSP00000402176.1:p.Ser280Ter
ENST00000445609.6:c.842C>G	ENSP00000389879.2:p.Ser281Ter
ENST00000461707.5:n.2427C>G
ENST00000496524.5:n.2443C>G
ENST00000674677.1:c.773C>G	ENSP00000502265.1:p.Ser258Ter
ENST00000675067.1:c.41C>G	ENSP00000502817.1:p.Ser14Ter
ENST00000675356.1:n.1330C>G
ENST00000675752.1:n.2427C>G
ENST00000676028.1:c.771+1623C>G	ENSP00000502639.1:n.771+1623C>G
ENST00000676053.1:c.653C>G	ENSP00000502475.1:p.Ser218Ter
ENST00000676091.1:c.150+1623C>G	ENSP00000502528.1:n.150+1623C>G
ENST00000676165.1:n.2433C>G
ENST00000676258.1:n.1933C>G
XM_005263675.1:c.1007C>G	XP_005263732.1:p.Ser336Ter
XM_005263676.1:c.842C>G	XP_005263733.1:p.Ser281Ter
XM_005263677.1:c.839C>G	XP_005263734.1:p.Ser280Ter
XM_005263678.2:c.1010C>G	XP_005263735.1:p.Ser337Ter
XM_005263679.1:c.839C>G	XP_005263736.1:p.Ser280Ter
XM_006712551.1:c.1010C>G	XP_006712614.1:p.Ser337Ter
XM_006712552.2:c.1010C>G	XP_006712615.1:p.Ser337Ter
XM_011511244.1:c.1010C>G	XP_011509546.1:p.Ser337Ter
XM_017004218.1:c.842C>G	XP_016859707.1:p.Ser281Ter