Canonical Allele Identifier: CA15772974
Gene: PIBF1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.72985844C>T , CM000675.2:g.72985844C>T GRCh38
NC_000013.10:g.73559982C>T , CM000675.1:g.73559982C>T GRCh37
NC_000013.9:g.72457983C>T NCBI36
NG_053118.1:g.208821C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000326291.11:c.2049+12169C>T MANE Select ENSP00000317144.6:n.2049+12169C>T
ENST00000326291.10:c.2049+12169C>T ENSP00000317144.6:n.2049+12169C>T
ENST00000469712.1:n.200+12169C>T
ENST00000489922.5:n.265+12169C>T
ENST00000615625.1:c.426+12169C>T ENSP00000483286.1:n.426+12169C>T
NM_006346.2:c.2049+12169C>T NP_006337.2:n.2049+12169C>T
XM_011534881.1:c.2136+12169C>T XP_011533183.1:n.2136+12169C>T
XM_011534882.1:c.1921-12978C>T XP_011533184.1:n.1921-12978C>T
XM_011534885.1:c.1767+12169C>T XP_011533187.1:n.1767+12169C>T
XR_941461.1:n.2202-12978C>T
NM_001349655.1:c.2136+12169C>T NP_001336584.1:n.2136+12169C>T
NM_006346.3:c.2049+12169C>T NP_006337.2:n.2049+12169C>T
NR_146205.1:n.2446+12169C>T
NR_146206.1:n.2362-12978C>T
XM_011534882.3:c.1921-12978C>T XP_011533184.1:n.1921-12978C>T
XM_011534885.3:c.1767+12169C>T XP_011533187.1:n.1767+12169C>T
XM_017020350.2:c.1680+12169C>T XP_016875839.1:n.1680+12169C>T
XM_017020352.2:c.933+12169C>T XP_016875841.1:n.933+12169C>T
XM_017020354.2:c.846+12169C>T XP_016875843.1:n.846+12169C>T
XM_024449314.1:c.1834-12978C>T XP_024305082.1:n.1834-12978C>T
XR_001749456.2:n.2394-12978C>T
XR_001749457.2:n.2229-12978C>T
XR_001749458.2:n.2400+12169C>T
XR_001749459.2:n.2316-12978C>T
XR_001749460.2:n.2147+12169C>T
XR_002957449.1:n.2348-12978C>T
XR_941461.3:n.2316-12978C>T
NM_006346.4:c.2049+12169C>T MANE Select NP_006337.2:n.2049+12169C>T
NM_001349655.2:c.2136+12169C>T NP_001336584.1:n.2136+12169C>T
NR_146205.2:n.2336+12169C>T
NR_146206.2:n.2252-12978C>T
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