Canonical Allele Identifier: CA12503299
Gene: NPSR1 HGNC NCBI
NPSR1-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1458545
gnomAD v2: 7-34701201-C-T
gnomAD v3: 7-34661589-C-T
gnomAD v4: 7-34661589-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.34661589C>T , CM000669.2:g.34661589C>T GRCh38
NC_000007.13:g.34701201C>T , CM000669.1:g.34701201C>T GRCh37
NC_000007.12:g.34667726C>T NCBI36
NG_012185.1:g.8305C>T
NG_021366.1:g.177743G>A
NG_012185.2:g.8305C>T
NG_021366.2:g.177743G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000360581.6:c.147+3030C>T (NPSR1) MANE Select ENSP00000353788.1:n.147+3030C>T
ENST00000359791.5:c.147+3030C>T (NPSR1) ENSP00000352839.1:n.147+3030C>T
ENST00000360581.5:c.147+3030C>T (NPSR1) ENSP00000353788.1:n.147+3030C>T
ENST00000381539.3:c.147+3030C>T (NPSR1) ENSP00000370950.3:n.147+3030C>T
ENST00000381542.5:c.147+3030C>T (NPSR1) ENSP00000370953.1:n.147+3030C>T
ENST00000381544.6:c.147+3030C>T (NPSR1) ENSP00000370955.2:n.147+3030C>T
ENST00000381553.7:c.147+3030C>T (NPSR1) ENSP00000370965.3:n.147+3030C>T
ENST00000396095.6:c.147+3030C>T (NPSR1) ENSP00000379402.2:n.147+3030C>T
ENST00000465305.5:c.147+3030C>T (NPSR1) ENSP00000434955.1:n.147+3030C>T
ENST00000531252.5:c.147+3030C>T (NPSR1) ENSP00000433258.1:n.147+3030C>T
NM_001300933.1:c.147+3030C>T (NPSR1) NP_001287862.1:n.147+3030C>T
NM_001300934.1:c.147+3030C>T (NPSR1) NP_001287863.1:n.147+3030C>T
NM_001300935.1:c.147+3030C>T (NPSR1) NP_001287864.1:n.147+3030C>T
NM_207172.1:c.147+3030C>T (NPSR1) NP_997055.1:n.147+3030C>T
NM_207173.1:c.147+3030C>T (NPSR1) NP_997056.1:n.147+3030C>T
NR_033664.1:n.279+67148G>A (NPSR1-AS1)
NR_033665.1:n.279+67148G>A (NPSR1-AS1)
NM_001300933.2:c.147+3030C>T (NPSR1) NP_001287862.1:n.147+3030C>T
NM_207172.2:c.147+3030C>T (NPSR1) MANE Select NP_997055.1:n.147+3030C>T
NM_207173.2:c.147+3030C>T (NPSR1) NP_997056.1:n.147+3030C>T
NM_001300934.2:c.147+3030C>T (NPSR1) NP_001287863.1:n.147+3030C>T
NM_001300935.2:c.147+3030C>T (NPSR1) NP_001287864.1:n.147+3030C>T