Canonical Allele Identifier: CA252588738

Gene: PIBF1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.72965358A>T , CM000675.2:g.72965358A>T	GRCh38
NC_000013.10:g.73539496A>T , CM000675.1:g.73539496A>T	GRCh37
NC_000013.9:g.72437497A>T	NCBI36
NG_053118.1:g.188335A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006346.4:c.1918A>T MANE Select	NP_006337.2:p.Ile640Phe
ENST00000326291.11:c.1918A>T MANE Select	ENSP00000317144.6:p.Ile640Phe
NM_001349655.1:c.2005A>T	NP_001336584.1:p.Ile669Phe
NM_001349655.2:c.2005A>T	NP_001336584.1:p.Ile669Phe
NM_006346.2:c.1918A>T	NP_006337.2:p.Ile640Phe
NM_006346.3:c.1918A>T	NP_006337.2:p.Ile640Phe
NR_146205.1:n.2315A>T
NR_146205.2:n.2205A>T
NR_146206.1:n.2315A>T
NR_146206.2:n.2205A>T
ENST00000326291.10:c.1918A>T	ENSP00000317144.6:p.Ile640Phe
ENST00000615625.1:c.295A>T	ENSP00000483286.1:p.Ile99Phe
ENST00000617689.4:c.1918A>T	ENSP00000478697.1:p.Ile640Phe
XM_011534881.1:c.2005A>T	XP_011533183.1:p.Ile669Phe
XM_011534882.1:c.1921-33464A>T	XP_011533184.1:n.1921-33464A>T
XM_011534882.3:c.1921-33464A>T	XP_011533184.1:n.1921-33464A>T
XM_011534885.1:c.1636A>T	XP_011533187.1:p.Ile546Phe
XM_011534885.3:c.1636A>T	XP_011533187.1:p.Ile546Phe
XM_017020350.2:c.1549A>T	XP_016875839.1:p.Ile517Phe
XM_017020352.2:c.802A>T	XP_016875841.1:p.Ile268Phe
XM_017020354.2:c.715A>T	XP_016875843.1:p.Ile239Phe
XM_024449314.1:c.1834-33464A>T	XP_024305082.1:n.1834-33464A>T
XR_001749456.2:n.2347A>T
XR_001749457.2:n.2182A>T
XR_001749458.2:n.2269A>T
XR_001749459.2:n.2269A>T
XR_001749460.2:n.2016A>T
XR_002957449.1:n.2301A>T
XR_941461.1:n.2155A>T
XR_941461.3:n.2269A>T