Canonical Allele Identifier: CA4215945

Gene: NPSR1

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.34834426C>G , CM000669.2:g.34834426C>G	GRCh38
NC_000007.13:g.34874038C>G , CM000669.1:g.34874038C>G	GRCh37
NC_000007.12:g.34840563C>G	NCBI36
NG_012185.1:g.181142C>G
NG_021366.1:g.4906G>C
NG_012185.2:g.181142C>G
NG_021366.2:g.4906G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360581.6:c.723C>G MANE Select	ENSP00000353788.1:p.Ser241Arg
ENST00000359791.5:c.723C>G	ENSP00000352839.1:p.Ser241Arg
ENST00000360581.5:c.723C>G	ENSP00000353788.1:p.Ser241Arg
ENST00000381539.3:c.723C>G	ENSP00000370950.3:p.Ser241Arg
ENST00000381542.5:c.525C>G	ENSP00000370953.1:p.Ser175Arg
ENST00000381544.6:c.*142C>G	ENSP00000370955.2:n.*142C>G
ENST00000396095.6:c.*218C>G	ENSP00000379402.2:n.*218C>G
ENST00000531252.5:c.690C>G	ENSP00000433258.1:p.Ser230Arg
NM_001300933.1:c.690C>G	NP_001287862.1:p.Ser230Arg
NM_001300934.1:c.525C>G	NP_001287863.1:p.Ser175Arg
NM_001300935.1:c.723C>G	NP_001287864.1:p.Ser241Arg
NM_207172.1:c.723C>G	NP_997055.1:p.Ser241Arg
NM_207173.1:c.723C>G	NP_997056.1:p.Ser241Arg
NM_001300933.2:c.690C>G	NP_001287862.1:p.Ser230Arg
NM_207172.2:c.723C>G MANE Select	NP_997055.1:p.Ser241Arg
NM_207173.2:c.723C>G	NP_997056.1:p.Ser241Arg
NM_001300934.2:c.525C>G	NP_001287863.1:p.Ser175Arg
NM_001300935.2:c.723C>G	NP_001287864.1:p.Ser241Arg