Canonical Allele Identifier: CA367260447

Gene: NPSR1 NPSR1-AS1

Linked Data

• MyVariant Identifiers: chr7:g.34818116G>T (hg19) ; chr7:g.34778504G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.34778504G>T , CM000669.2:g.34778504G>T	GRCh38
NC_000007.13:g.34818116G>T , CM000669.1:g.34818116G>T	GRCh37
NC_000007.12:g.34784641G>T	NCBI36
NG_012185.1:g.125220G>T
NG_021366.1:g.60828C>A
NG_012185.2:g.125220G>T
NG_021366.2:g.60828C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000360581.6:c.323G>T (NPSR1) MANE Select	ENSP00000353788.1:p.Trp108Leu
ENST00000359791.5:c.323G>T (NPSR1)	ENSP00000352839.1:p.Trp108Leu
ENST00000360581.5:c.323G>T (NPSR1)	ENSP00000353788.1:p.Trp108Leu
ENST00000381539.3:c.323G>T (NPSR1)	ENSP00000370950.3:p.Trp108Leu
ENST00000381542.5:c.281-48897G>T (NPSR1)	ENSP00000370953.1:n.281-48897G>T
ENST00000381544.6:c.281-33266G>T (NPSR1)	ENSP00000370955.2:n.281-33266G>T
ENST00000381553.7:c.323G>T (NPSR1)	ENSP00000370965.3:p.Trp108Leu
ENST00000396095.6:c.323G>T (NPSR1)	ENSP00000379402.2:p.Trp108Leu
ENST00000531252.5:c.290G>T (NPSR1)	ENSP00000433258.1:p.Trp97Leu
NM_001300933.1:c.290G>T (NPSR1)	NP_001287862.1:p.Trp97Leu
NM_001300934.1:c.281-48897G>T (NPSR1)	NP_001287863.1:n.281-48897G>T
NM_001300935.1:c.323G>T (NPSR1)	NP_001287864.1:p.Trp108Leu
NM_207172.1:c.323G>T (NPSR1)	NP_997055.1:p.Trp108Leu
NM_207173.1:c.323G>T (NPSR1)	NP_997056.1:p.Trp108Leu
NR_015356.2:n.172-10064C>A (NPSR1-AS1)
NM_001300933.2:c.290G>T (NPSR1)	NP_001287862.1:p.Trp97Leu
NM_207172.2:c.323G>T (NPSR1) MANE Select	NP_997055.1:p.Trp108Leu
NM_207173.2:c.323G>T (NPSR1)	NP_997056.1:p.Trp108Leu
NM_001300934.2:c.281-48897G>T (NPSR1)	NP_001287863.1:n.281-48897G>T
NM_001300935.2:c.323G>T (NPSR1)	NP_001287864.1:p.Trp108Leu