Canonical Allele Identifier: CA348090533

Gene: NPHP1

Linked Data

• dbSNP Id: rs121907899
• gnomAD v2: 2-110920625-C-A
• MyVariant Identifiers: chr2:g.110920625C>A (hg19) ; chr2:g.110163048C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.110163048C>A , CM000664.2:g.110163048C>A	GRCh38
NC_000002.11:g.110920625C>A , CM000664.1:g.110920625C>A	GRCh37
NC_000002.10:g.110277914C>A	NCBI36
NG_008287.1:g.47015G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000445609.7:c.859G>T MANE Select	ENSP00000389879.3:p.Gly287Trp
ENST00000674677.1:c.790G>T	ENSP00000502265.1:p.Gly264Trp
ENST00000675067.1:c.58G>T	ENSP00000502817.1:p.Gly20Trp
ENST00000675356.1:n.1347G>T
ENST00000675752.1:n.2444G>T
ENST00000676028.1:c.771+1640G>T	ENSP00000502639.1:n.771+1640G>T
ENST00000676053.1:c.670G>T	ENSP00000502475.1:p.Gly224Trp
ENST00000676091.1:c.150+1640G>T	ENSP00000502528.1:n.150+1640G>T
ENST00000676165.1:n.2450G>T
ENST00000676258.1:n.1950G>T
ENST00000316534.8:c.1027G>T	ENSP00000313169.4:p.Gly343Trp
ENST00000355301.8:c.670G>T	ENSP00000347452.4:p.Gly224Trp
ENST00000393272.7:c.1024G>T	ENSP00000376953.3:p.Gly342Trp
ENST00000417665.5:c.856G>T	ENSP00000402176.1:p.Gly286Trp
ENST00000445609.6:c.859G>T	ENSP00000389879.2:p.Gly287Trp
ENST00000461707.5:n.2444G>T
ENST00000496524.5:n.2460G>T
NM_000272.3:c.1027G>T	NP_000263.2:p.Gly343Trp
NM_001128178.1:c.859G>T	NP_001121650.1:p.Gly287Trp
NM_001128179.1:c.670G>T	NP_001121651.1:p.Gly224Trp
NM_207181.2:c.1024G>T	NP_997064.2:p.Gly342Trp
XM_005263675.1:c.1024G>T	XP_005263732.1:p.Gly342Trp
XM_005263676.1:c.859G>T	XP_005263733.1:p.Gly287Trp
XM_005263677.1:c.856G>T	XP_005263734.1:p.Gly286Trp
XM_005263678.2:c.1027G>T	XP_005263735.1:p.Gly343Trp
XM_005263679.1:c.856G>T	XP_005263736.1:p.Gly286Trp
XM_006712551.1:c.1027G>T	XP_006712614.1:p.Gly343Trp
XM_006712552.2:c.1027G>T	XP_006712615.1:p.Gly343Trp
XM_011511244.1:c.1027G>T	XP_011509546.1:p.Gly343Trp
XM_017004218.1:c.859G>T	XP_016859707.1:p.Gly287Trp
NM_000272.4:c.1027G>T	NP_000263.2:p.Gly343Trp
NM_001128178.3:c.859G>T MANE Select	NP_001121650.1:p.Gly287Trp
NM_001128179.2:c.670G>T	NP_001121651.1:p.Gly224Trp
NM_001374256.1:c.856G>T	NP_001361185.1:p.Gly286Trp
NM_001374257.1:c.859G>T	NP_001361186.1:p.Gly287Trp
NM_207181.3:c.1024G>T	NP_997064.2:p.Gly342Trp
NM_000272.5:c.1027G>T	NP_000263.2:p.Gly343Trp
NM_001128179.3:c.670G>T	NP_001121651.1:p.Gly224Trp
NM_207181.4:c.1024G>T	NP_997064.2:p.Gly342Trp