Canonical Allele Identifier: CA388272474
Gene: PIBF1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.72835264T>G , CM000675.2:g.72835264T>G GRCh38
NC_000013.10:g.73409402T>G , CM000675.1:g.73409402T>G GRCh37
NC_000013.9:g.72307403T>G NCBI36
NG_053118.1:g.58241T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000326291.11:c.1119T>G MANE Select ENSP00000317144.6:p.Tyr373Ter
ENST00000326291.10:c.1119T>G ENSP00000317144.6:p.Tyr373Ter
ENST00000492803.1:n.383T>G
ENST00000615625.1:c.-240T>G ENSP00000483286.1:n.-240T>G
ENST00000617689.4:c.1119T>G ENSP00000478697.1:p.Tyr373Ter
NM_006346.2:c.1119T>G NP_006337.2:p.Tyr373Ter
XM_006719755.2:c.1142T>G XP_006719818.1:p.Met381Arg
XM_011534881.1:c.1119T>G XP_011533183.1:p.Tyr373Ter
XM_011534882.1:c.1119T>G XP_011533184.1:p.Tyr373Ter
XM_011534883.1:c.1119T>G XP_011533185.1:p.Tyr373Ter
XM_011534884.1:c.1119T>G XP_011533186.1:p.Tyr373Ter
XM_011534885.1:c.750T>G XP_011533187.1:p.Tyr250Ter
XM_011534886.1:c.1119T>G XP_011533188.1:p.Tyr373Ter
XR_941461.1:n.1269T>G
NM_001349655.1:c.1119T>G NP_001336584.1:p.Tyr373Ter
NM_006346.3:c.1119T>G NP_006337.2:p.Tyr373Ter
NR_146205.1:n.1516T>G
NR_146206.1:n.1516T>G
XM_011534882.3:c.1119T>G XP_011533184.1:p.Tyr373Ter
XM_011534884.3:c.1119T>G XP_011533186.1:p.Tyr373Ter
XM_011534885.3:c.750T>G XP_011533187.1:p.Tyr250Ter
XM_011534886.3:c.1119T>G XP_011533188.1:p.Tyr373Ter
XM_017020350.2:c.750T>G XP_016875839.1:p.Tyr250Ter
XM_017020351.2:c.1119T>G XP_016875840.1:p.Tyr373Ter
XM_017020352.2:c.-85T>G XP_016875841.1:n.-85T>G
XM_017020354.2:c.-85T>G XP_016875843.1:n.-85T>G
XM_024449314.1:c.1119T>G XP_024305082.1:p.Tyr373Ter
XR_001749456.2:n.1383T>G
XR_001749457.2:n.1383T>G
XR_001749458.2:n.1383T>G
XR_001749459.2:n.1383T>G
XR_001749460.2:n.1383T>G
XR_002957449.1:n.1383T>G
XR_941461.3:n.1383T>G
NM_006346.4:c.1119T>G MANE Select NP_006337.2:p.Tyr373Ter
NM_001349655.2:c.1119T>G NP_001336584.1:p.Tyr373Ter
NR_146205.2:n.1406T>G
NR_146206.2:n.1406T>G