Canonical Allele Identifier: CA16609498
Gene: PRUNE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 402132
dbSNP Id: rs200618384

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.151024795G>T , CM000663.2:g.151024795G>T GRCh38
NC_000001.10:g.150997271G>T , CM000663.1:g.150997271G>T GRCh37
NC_000001.9:g.149263895G>T NCBI36
NG_052875.1:g.21405G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000271620.8:c.520G>T MANE Select ENSP00000271620.3:p.Gly174Ter
ENST00000650332.1:c.430G>T ENSP00000497847.1:p.Gly144Ter
ENST00000271620.7:c.520G>T ENSP00000271620.3:p.Gly174Ter
ENST00000368934.1:c.-27G>T ENSP00000357930.1:n.-27G>T
ENST00000368935.1:c.-17-2438G>T ENSP00000357931.1:n.-17-2438G>T
ENST00000368936.5:c.-27G>T ENSP00000357932.1:n.-27G>T
ENST00000368937.5:c.-26-720G>T ENSP00000357933.1:n.-26-720G>T
ENST00000431193.5:c.-26-720G>T ENSP00000392632.1:n.-26-720G>T
ENST00000450884.5:c.-27G>T ENSP00000387696.1:n.-27G>T
ENST00000462440.5:n.429-2438G>T
ENST00000467771.5:n.643G>T
ENST00000475722.5:n.502-2438G>T
NM_001303229.1:c.-27G>T NP_001290158.1:n.-27G>T
NM_001303242.1:c.520G>T NP_001290171.1:p.Gly174Ter
NM_001303243.1:c.77-2438G>T NP_001290172.1:n.77-2438G>T
NM_021222.2:c.520G>T NP_067045.1:p.Gly174Ter
NR_130130.1:n.282-720G>T
NR_130131.1:n.375-2438G>T
NR_130132.1:n.375-2438G>T
NR_130135.1:n.375-720G>T
XM_005245393.3:c.430G>T XP_005245450.1:p.Gly144Ter
XM_005245397.3:c.-26-720G>T XP_005245454.1:n.-26-720G>T
XM_011509830.1:c.520G>T XP_011508132.1:p.Gly174Ter
XM_011509831.1:c.77-2438G>T XP_011508133.1:n.77-2438G>T
XM_011509832.1:c.-27G>T XP_011508134.1:n.-27G>T
XM_005245393.5:c.430G>T XP_005245450.1:p.Gly144Ter
XM_011509832.2:c.-27G>T XP_011508134.1:n.-27G>T
XM_017001955.2:c.430G>T XP_016857444.1:p.Gly144Ter
XM_017001956.1:c.-26-720G>T XP_016857445.1:n.-26-720G>T
XM_017001957.1:c.77-2438G>T XP_016857446.1:n.77-2438G>T
NM_021222.3:c.520G>T MANE Select NP_067045.1:p.Gly174Ter
NM_001303229.2:c.-27G>T NP_001290158.1:n.-27G>T
NM_001303242.2:c.520G>T NP_001290171.1:p.Gly174Ter
NM_001303243.2:c.77-2438G>T NP_001290172.1:n.77-2438G>T
NR_130130.2:n.224-720G>T
NR_130131.2:n.317-2438G>T
NR_130132.2:n.317-2438G>T
NR_130135.2:n.317-720G>T