Canonical Allele Identifier: CA454496271
Gene: NPSR1 HGNC NCBI
NPSR1-AS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.34818123C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.34778511C>T , CM000669.2:g.34778511C>T GRCh38
NC_000007.13:g.34818123C>T , CM000669.1:g.34818123C>T GRCh37
NC_000007.12:g.34784648C>T NCBI36
NG_012185.1:g.125227C>T
NG_021366.1:g.60821G>A
NG_012185.2:g.125227C>T
NG_021366.2:g.60821G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000360581.6:c.330C>T (NPSR1) MANE Select ENSP00000353788.1:p.Phe110=
ENST00000359791.5:c.330C>T (NPSR1) ENSP00000352839.1:p.Phe110=
ENST00000360581.5:c.330C>T (NPSR1) ENSP00000353788.1:p.Phe110=
ENST00000381539.3:c.330C>T (NPSR1) ENSP00000370950.3:p.Phe110=
ENST00000381542.5:c.281-48890C>T (NPSR1) ENSP00000370953.1:n.281-48890C>T
ENST00000381544.6:c.281-33259C>T (NPSR1) ENSP00000370955.2:n.281-33259C>T
ENST00000381553.7:c.330C>T (NPSR1) ENSP00000370965.3:p.Phe110=
ENST00000396095.6:c.330C>T (NPSR1) ENSP00000379402.2:p.Phe110=
ENST00000531252.5:c.297C>T (NPSR1) ENSP00000433258.1:p.Phe99=
NM_001300933.1:c.297C>T (NPSR1) NP_001287862.1:p.Phe99=
NM_001300934.1:c.281-48890C>T (NPSR1) NP_001287863.1:n.281-48890C>T
NM_001300935.1:c.330C>T (NPSR1) NP_001287864.1:p.Phe110=
NM_207172.1:c.330C>T (NPSR1) NP_997055.1:p.Phe110=
NM_207173.1:c.330C>T (NPSR1) NP_997056.1:p.Phe110=
NR_015356.2:n.172-10071G>A (NPSR1-AS1)
NM_001300933.2:c.297C>T (NPSR1) NP_001287862.1:p.Phe99=
NM_207172.2:c.330C>T (NPSR1) MANE Select NP_997055.1:p.Phe110=
NM_207173.2:c.330C>T (NPSR1) NP_997056.1:p.Phe110=
NM_001300934.2:c.281-48890C>T (NPSR1) NP_001287863.1:n.281-48890C>T
NM_001300935.2:c.330C>T (NPSR1) NP_001287864.1:p.Phe110=