Canonical Allele Identifier: CA388345320

Gene: PIBF1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.72931235C>T , CM000675.2:g.72931235C>T	GRCh38
NC_000013.10:g.73505373C>T , CM000675.1:g.73505373C>T	GRCh37
NC_000013.9:g.72403374C>T	NCBI36
NG_053118.1:g.154212C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006346.4:c.1801C>T MANE Select	NP_006337.2:p.Arg601Ter
ENST00000326291.11:c.1801C>T MANE Select	ENSP00000317144.6:p.Arg601Ter
NM_001349655.1:c.1888C>T	NP_001336584.1:p.Arg630Ter
NM_001349655.2:c.1888C>T	NP_001336584.1:p.Arg630Ter
NM_006346.2:c.1801C>T	NP_006337.2:p.Arg601Ter
NM_006346.3:c.1801C>T	NP_006337.2:p.Arg601Ter
NR_146205.1:n.2198C>T
NR_146205.2:n.2088C>T
NR_146206.1:n.2198C>T
NR_146206.2:n.2088C>T
ENST00000326291.10:c.1801C>T	ENSP00000317144.6:p.Arg601Ter
ENST00000615625.1:c.178C>T	ENSP00000483286.1:p.Arg60Ter
ENST00000617689.4:c.1801C>T	ENSP00000478697.1:p.Arg601Ter
XM_011534881.1:c.1888C>T	XP_011533183.1:p.Arg630Ter
XM_011534882.1:c.1888C>T	XP_011533184.1:p.Arg630Ter
XM_011534882.3:c.1888C>T	XP_011533184.1:p.Arg630Ter
XM_011534883.1:c.1888C>T	XP_011533185.1:p.Arg630Ter
XM_011534884.1:c.1888C>T	XP_011533186.1:p.Arg630Ter
XM_011534884.3:c.1888C>T	XP_011533186.1:p.Arg630Ter
XM_011534885.1:c.1519C>T	XP_011533187.1:p.Arg507Ter
XM_011534885.3:c.1519C>T	XP_011533187.1:p.Arg507Ter
XM_017020350.2:c.1432C>T	XP_016875839.1:p.Arg478Ter
XM_017020352.2:c.685C>T	XP_016875841.1:p.Arg229Ter
XM_017020354.2:c.598C>T	XP_016875843.1:p.Arg200Ter
XM_024449314.1:c.1801C>T	XP_024305082.1:p.Arg601Ter
XR_001749456.2:n.2152C>T
XR_001749457.2:n.2065C>T
XR_001749458.2:n.2065C>T
XR_001749459.2:n.2065C>T
XR_001749460.2:n.1899C>T
XR_002957449.1:n.2184C>T
XR_941461.1:n.2038C>T
XR_941461.3:n.2152C>T