Canonical Allele Identifier: CA427921736

Gene: NPHP1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.110131704T>C , CM000664.2:g.110131704T>C	GRCh38
NC_000002.11:g.110889281T>C , CM000664.1:g.110889281T>C	GRCh37
NC_000002.10:g.110246570T>C	NCBI36
NG_008287.1:g.78359A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001128178.3:c.1617A>G MANE Select	NP_001121650.1:p.Lys539=
ENST00000445609.7:c.1617A>G MANE Select	ENSP00000389879.3:p.Lys539=
NM_000272.3:c.1785A>G	NP_000263.2:p.Lys595=
NM_000272.4:c.1785A>G	NP_000263.2:p.Lys595=
NM_000272.5:c.1785A>G	NP_000263.2:p.Lys595=
NM_001128178.1:c.1617A>G	NP_001121650.1:p.Lys539=
NM_001128179.1:c.1428A>G	NP_001121651.1:p.Lys476=
NM_001128179.2:c.1428A>G	NP_001121651.1:p.Lys476=
NM_001128179.3:c.1428A>G	NP_001121651.1:p.Lys476=
NM_001374256.1:c.1614A>G	NP_001361185.1:p.Lys538=
NM_001374257.1:c.1617A>G	NP_001361186.1:p.Lys539=
NM_207181.2:c.1782A>G	NP_997064.2:p.Lys594=
NM_207181.3:c.1782A>G	NP_997064.2:p.Lys594=
NM_207181.4:c.1782A>G	NP_997064.2:p.Lys594=
ENST00000316534.8:c.1785A>G	ENSP00000313169.4:p.Lys595=
ENST00000355301.8:c.1428A>G	ENSP00000347452.4:p.Lys476=
ENST00000393272.7:c.1782A>G	ENSP00000376953.3:p.Lys594=
ENST00000417665.5:c.1614A>G	ENSP00000402176.1:p.Lys538=
ENST00000445609.6:c.1617A>G	ENSP00000389879.2:p.Lys539=
ENST00000461707.5:n.3202A>G
ENST00000493051.1:n.244A>G
ENST00000496524.5:n.4069A>G
ENST00000674677.1:c.1662A>G	ENSP00000502265.1:p.Lys554=
ENST00000675067.1:c.816A>G	ENSP00000502817.1:p.Lys272=
ENST00000675294.1:n.1874A>G
ENST00000675356.1:n.2295A>G
ENST00000675632.1:n.3021A>G
ENST00000675752.1:n.3320A>G
ENST00000676028.1:c.1434A>G	ENSP00000502639.1:p.Lys478=
ENST00000676053.1:c.1428A>G	ENSP00000502475.1:p.Lys476=
ENST00000676091.1:c.813A>G	ENSP00000502528.1:p.Lys271=
ENST00000676165.1:n.3280A>G
ENST00000676258.1:n.2708A>G
XM_005263675.1:c.1782A>G	XP_005263732.1:p.Lys594=
XM_005263676.1:c.1617A>G	XP_005263733.1:p.Lys539=
XM_005263677.1:c.1614A>G	XP_005263734.1:p.Lys538=
XM_005263678.2:c.1785A>G	XP_005263735.1:p.Lys595=
XM_005263679.1:c.1614A>G	XP_005263736.1:p.Lys538=
XM_006712551.1:c.1785A>G	XP_006712614.1:p.Lys595=
XM_011511244.1:c.1785A>G	XP_011509546.1:p.Lys595=
XM_017004218.1:c.1617A>G	XP_016859707.1:p.Lys539=