Canonical Allele Identifier: CA7002169
Community Standard Title: NM_006346.4(PIBF1):c.1213C>T (p.Arg405Ter)
Gene: PIBF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.72835358C>T , CM000675.2:g.72835358C>T GRCh38
NC_000013.10:g.73409496C>T , CM000675.1:g.73409496C>T GRCh37
NC_000013.9:g.72307497C>T NCBI36
NG_053118.1:g.58335C>T

Transcript Alleles

HGVS Amino-acid Change
NM_006346.4:c.1213C>T MANE Select NP_006337.2:p.Arg405Ter
ENST00000326291.11:c.1213C>T MANE Select ENSP00000317144.6:p.Arg405Ter
NM_001349655.1:c.1213C>T NP_001336584.1:p.Arg405Ter
NM_001349655.2:c.1213C>T NP_001336584.1:p.Arg405Ter
NM_006346.2:c.1213C>T NP_006337.2:p.Arg405Ter
NM_006346.3:c.1213C>T NP_006337.2:p.Arg405Ter
NR_146205.1:n.1610C>T
NR_146205.2:n.1500C>T
NR_146206.1:n.1610C>T
NR_146206.2:n.1500C>T
ENST00000326291.10:c.1213C>T ENSP00000317144.6:p.Arg405Ter
ENST00000615625.1:c.-146C>T ENSP00000483286.1:n.-146C>T
ENST00000617689.4:c.1213C>T ENSP00000478697.1:p.Arg405Ter
XM_006719755.2:c.*69C>T XP_006719818.1:n.*69C>T
XM_011534881.1:c.1213C>T XP_011533183.1:p.Arg405Ter
XM_011534882.1:c.1213C>T XP_011533184.1:p.Arg405Ter
XM_011534882.3:c.1213C>T XP_011533184.1:p.Arg405Ter
XM_011534883.1:c.1213C>T XP_011533185.1:p.Arg405Ter
XM_011534884.1:c.1213C>T XP_011533186.1:p.Arg405Ter
XM_011534884.3:c.1213C>T XP_011533186.1:p.Arg405Ter
XM_011534885.1:c.844C>T XP_011533187.1:p.Arg282Ter
XM_011534885.3:c.844C>T XP_011533187.1:p.Arg282Ter
XM_011534886.1:c.1213C>T XP_011533188.1:p.Arg405Ter
XM_011534886.3:c.1213C>T XP_011533188.1:p.Arg405Ter
XM_017020350.2:c.844C>T XP_016875839.1:p.Arg282Ter
XM_017020351.2:c.1213C>T XP_016875840.1:p.Arg405Ter
XM_017020352.2:c.10C>T XP_016875841.1:p.Arg4Ter
XM_017020354.2:c.10C>T XP_016875843.1:p.Arg4Ter
XM_024449314.1:c.1213C>T XP_024305082.1:p.Arg405Ter
XR_001749456.2:n.1477C>T
XR_001749457.2:n.1477C>T
XR_001749458.2:n.1477C>T
XR_001749459.2:n.1477C>T
XR_001749460.2:n.1477C>T
XR_002957449.1:n.1477C>T
XR_941461.1:n.1363C>T
XR_941461.3:n.1477C>T