Canonical Allele Identifier: CA388272450

Gene: PIBF1

Linked Data

• MyVariant Identifiers: chr13:g.73409399A>T (hg19) ; chr13:g.72835261A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.72835261A>T , CM000675.2:g.72835261A>T	GRCh38
NC_000013.10:g.73409399A>T , CM000675.1:g.73409399A>T	GRCh37
NC_000013.9:g.72307400A>T	NCBI36
NG_053118.1:g.58238A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000326291.11:c.1116A>T MANE Select	ENSP00000317144.6:p.Glu372Asp
ENST00000326291.10:c.1116A>T	ENSP00000317144.6:p.Glu372Asp
ENST00000492803.1:n.380A>T
ENST00000615625.1:c.-243A>T	ENSP00000483286.1:n.-243A>T
ENST00000617689.4:c.1116A>T	ENSP00000478697.1:p.Glu372Asp
NM_006346.2:c.1116A>T	NP_006337.2:p.Glu372Asp
XM_006719755.2:c.1139A>T	XP_006719818.1:p.Asn380Ile
XM_011534881.1:c.1116A>T	XP_011533183.1:p.Glu372Asp
XM_011534882.1:c.1116A>T	XP_011533184.1:p.Glu372Asp
XM_011534883.1:c.1116A>T	XP_011533185.1:p.Glu372Asp
XM_011534884.1:c.1116A>T	XP_011533186.1:p.Glu372Asp
XM_011534885.1:c.747A>T	XP_011533187.1:p.Glu249Asp
XM_011534886.1:c.1116A>T	XP_011533188.1:p.Glu372Asp
XR_941461.1:n.1266A>T
NM_001349655.1:c.1116A>T	NP_001336584.1:p.Glu372Asp
NM_006346.3:c.1116A>T	NP_006337.2:p.Glu372Asp
NR_146205.1:n.1513A>T
NR_146206.1:n.1513A>T
XM_011534882.3:c.1116A>T	XP_011533184.1:p.Glu372Asp
XM_011534884.3:c.1116A>T	XP_011533186.1:p.Glu372Asp
XM_011534885.3:c.747A>T	XP_011533187.1:p.Glu249Asp
XM_011534886.3:c.1116A>T	XP_011533188.1:p.Glu372Asp
XM_017020350.2:c.747A>T	XP_016875839.1:p.Glu249Asp
XM_017020351.2:c.1116A>T	XP_016875840.1:p.Glu372Asp
XM_017020352.2:c.-88A>T	XP_016875841.1:n.-88A>T
XM_017020354.2:c.-88A>T	XP_016875843.1:n.-88A>T
XM_024449314.1:c.1116A>T	XP_024305082.1:p.Glu372Asp
XR_001749456.2:n.1380A>T
XR_001749457.2:n.1380A>T
XR_001749458.2:n.1380A>T
XR_001749459.2:n.1380A>T
XR_001749460.2:n.1380A>T
XR_002957449.1:n.1380A>T
XR_941461.3:n.1380A>T
NM_006346.4:c.1116A>T MANE Select	NP_006337.2:p.Glu372Asp
NM_001349655.2:c.1116A>T	NP_001336584.1:p.Glu372Asp
NR_146205.2:n.1403A>T
NR_146206.2:n.1403A>T