LDH info

Canonical Allele Identifier: CA115395
Gene: NPSR1 HGNC NCBI
NPSR1-AS1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 2192
ClinVar RCV Id: RCV000002276
dbSNP Id: rs324981

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.34778501A>T , CM000669.2:g.34778501A>T GRCh38
NC_000007.13:g.34818113A>T , CM000669.1:g.34818113A>T GRCh37
NC_000007.12:g.34784638A>T NCBI36
NG_012185.1:g.125217A>T
NG_021366.1:g.60831T>A
NG_012185.2:g.125217A>T
NG_021366.2:g.60831T>A

Transcript Alleles

HGVS Amino-acid change
NM_001300933.1:c.287A>T (NPSR1) VV NP_001287862.1:p.Asn96Ile
NM_001300934.1:c.281-48900A>T (NPSR1) VV NP_001287863.1:p.=
NM_001300935.1:c.320A>T (NPSR1) VV NP_001287864.1:p.Asn107Ile
NM_207172.1:c.320A>T (NPSR1) VV NP_997055.1:p.Asn107Ile
NM_207173.1:c.320A>T (NPSR1) VV NP_997056.1:p.Asn107Ile
NR_015356.2:n.172-10061T>A (NPSR1-AS1)
NM_001300933.2:c.287A>T (NPSR1) VV NP_001287862.1:p.Asn96Ile
NM_207172.2:c.320A>T (NPSR1) VV NP_997055.1:p.Asn107Ile
NM_207173.2:c.320A>T (NPSR1) VV NP_997056.1:p.Asn107Ile
ENST00000359791.5:c.320A>T ENSP00000352839.1:p.Asn107Ile
ENST00000360581.5:c.320A>T ENSP00000353788.1:p.Asn107Ile
ENST00000381539.3:c.320A>T ENSP00000370950.3:p.Asn107Ile
ENST00000381542.5:c.281-48900A>T ENSP00000370953.1:p.=
ENST00000381544.6:c.281-33269A>T ENSP00000370955.2:p.=
ENST00000381553.7:c.320A>T ENSP00000370965.3:p.Asn107Ile
ENST00000396095.6:c.320A>T ENSP00000379402.2:p.Asn107Ile
ENST00000531252.5:c.287A>T ENSP00000433258.1:p.Asn96Ile