Canonical Allele Identifier: CA484046319
Gene: PIBF1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.73409408T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.72835270T>C , CM000675.2:g.72835270T>C GRCh38
NC_000013.10:g.73409408T>C , CM000675.1:g.73409408T>C GRCh37
NC_000013.9:g.72307409T>C NCBI36
NG_053118.1:g.58247T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000326291.11:c.1125T>C MANE Select ENSP00000317144.6:p.Asn375=
ENST00000326291.10:c.1125T>C ENSP00000317144.6:p.Asn375=
ENST00000492803.1:n.389T>C
ENST00000615625.1:c.-234T>C ENSP00000483286.1:n.-234T>C
ENST00000617689.4:c.1125T>C ENSP00000478697.1:p.Asn375=
NM_006346.2:c.1125T>C NP_006337.2:p.Asn375=
XM_006719755.2:c.1148T>C XP_006719818.1:p.Ile383Thr
XM_011534881.1:c.1125T>C XP_011533183.1:p.Asn375=
XM_011534882.1:c.1125T>C XP_011533184.1:p.Asn375=
XM_011534883.1:c.1125T>C XP_011533185.1:p.Asn375=
XM_011534884.1:c.1125T>C XP_011533186.1:p.Asn375=
XM_011534885.1:c.756T>C XP_011533187.1:p.Asn252=
XM_011534886.1:c.1125T>C XP_011533188.1:p.Asn375=
XR_941461.1:n.1275T>C
NM_001349655.1:c.1125T>C NP_001336584.1:p.Asn375=
NM_006346.3:c.1125T>C NP_006337.2:p.Asn375=
NR_146205.1:n.1522T>C
NR_146206.1:n.1522T>C
XM_011534882.3:c.1125T>C XP_011533184.1:p.Asn375=
XM_011534884.3:c.1125T>C XP_011533186.1:p.Asn375=
XM_011534885.3:c.756T>C XP_011533187.1:p.Asn252=
XM_011534886.3:c.1125T>C XP_011533188.1:p.Asn375=
XM_017020350.2:c.756T>C XP_016875839.1:p.Asn252=
XM_017020351.2:c.1125T>C XP_016875840.1:p.Asn375=
XM_017020352.2:c.-79T>C XP_016875841.1:n.-79T>C
XM_017020354.2:c.-79T>C XP_016875843.1:n.-79T>C
XM_024449314.1:c.1125T>C XP_024305082.1:p.Asn375=
XR_001749456.2:n.1389T>C
XR_001749457.2:n.1389T>C
XR_001749458.2:n.1389T>C
XR_001749459.2:n.1389T>C
XR_001749460.2:n.1389T>C
XR_002957449.1:n.1389T>C
XR_941461.3:n.1389T>C
NM_006346.4:c.1125T>C MANE Select NP_006337.2:p.Asn375=
NM_001349655.2:c.1125T>C NP_001336584.1:p.Asn375=
NR_146205.2:n.1412T>C
NR_146206.2:n.1412T>C