Canonical Allele Identifier: CA220568

Gene: NPHP1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.110131734A>G , CM000664.2:g.110131734A>G	GRCh38
NC_000002.11:g.110889311A>G , CM000664.1:g.110889311A>G	GRCh37
NC_000002.10:g.110246600A>G	NCBI36
NG_008287.1:g.78329T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001128178.3:c.1587T>C MANE Select	NP_001121650.1:p.Tyr529=
ENST00000445609.7:c.1587T>C MANE Select	ENSP00000389879.3:p.Tyr529=
NM_000272.3:c.1755T>C	NP_000263.2:p.Tyr585=
NM_000272.4:c.1755T>C	NP_000263.2:p.Tyr585=
NM_000272.5:c.1755T>C	NP_000263.2:p.Tyr585=
NM_001128178.1:c.1587T>C	NP_001121650.1:p.Tyr529=
NM_001128179.1:c.1398T>C	NP_001121651.1:p.Tyr466=
NM_001128179.2:c.1398T>C	NP_001121651.1:p.Tyr466=
NM_001128179.3:c.1398T>C	NP_001121651.1:p.Tyr466=
NM_001374256.1:c.1584T>C	NP_001361185.1:p.Tyr528=
NM_001374257.1:c.1587T>C	NP_001361186.1:p.Tyr529=
NM_207181.2:c.1752T>C	NP_997064.2:p.Tyr584=
NM_207181.3:c.1752T>C	NP_997064.2:p.Tyr584=
NM_207181.4:c.1752T>C	NP_997064.2:p.Tyr584=
ENST00000316534.8:c.1755T>C	ENSP00000313169.4:p.Tyr585=
ENST00000355301.8:c.1398T>C	ENSP00000347452.4:p.Tyr466=
ENST00000393272.7:c.1752T>C	ENSP00000376953.3:p.Tyr584=
ENST00000417665.5:c.1584T>C	ENSP00000402176.1:p.Tyr528=
ENST00000445609.6:c.1587T>C	ENSP00000389879.2:p.Tyr529=
ENST00000461707.5:n.3172T>C
ENST00000493051.1:n.214T>C
ENST00000496524.5:n.4039T>C
ENST00000674677.1:c.1632T>C	ENSP00000502265.1:p.Tyr544=
ENST00000675067.1:c.786T>C	ENSP00000502817.1:p.Tyr262=
ENST00000675294.1:n.1844T>C
ENST00000675356.1:n.2265T>C
ENST00000675632.1:n.2991T>C
ENST00000675752.1:n.3290T>C
ENST00000676028.1:c.1404T>C	ENSP00000502639.1:p.Tyr468=
ENST00000676053.1:c.1398T>C	ENSP00000502475.1:p.Tyr466=
ENST00000676091.1:c.783T>C	ENSP00000502528.1:p.Tyr261=
ENST00000676165.1:n.3250T>C
ENST00000676258.1:n.2678T>C
XM_005263675.1:c.1752T>C	XP_005263732.1:p.Tyr584=
XM_005263676.1:c.1587T>C	XP_005263733.1:p.Tyr529=
XM_005263677.1:c.1584T>C	XP_005263734.1:p.Tyr528=
XM_005263678.2:c.1755T>C	XP_005263735.1:p.Tyr585=
XM_005263679.1:c.1584T>C	XP_005263736.1:p.Tyr528=
XM_006712551.1:c.1755T>C	XP_006712614.1:p.Tyr585=
XM_011511244.1:c.1755T>C	XP_011509546.1:p.Tyr585=
XM_017004218.1:c.1587T>C	XP_016859707.1:p.Tyr529=