Canonical Allele Identifier: CA7002265

Gene: PIBF1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.72893914C>T , CM000675.2:g.72893914C>T	GRCh38
NC_000013.10:g.73468052C>T , CM000675.1:g.73468052C>T	GRCh37
NC_000013.9:g.72366053C>T	NCBI36
NG_053118.1:g.116891C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006346.4:c.1453C>T MANE Select	NP_006337.2:p.Gln485Ter
ENST00000326291.11:c.1453C>T MANE Select	ENSP00000317144.6:p.Gln485Ter
NM_001349655.1:c.1540C>T	NP_001336584.1:p.Gln514Ter
NM_001349655.2:c.1540C>T	NP_001336584.1:p.Gln514Ter
NM_006346.2:c.1453C>T	NP_006337.2:p.Gln485Ter
NM_006346.3:c.1453C>T	NP_006337.2:p.Gln485Ter
NR_146205.1:n.1850C>T
NR_146205.2:n.1740C>T
NR_146206.1:n.1850C>T
NR_146206.2:n.1740C>T
ENST00000326291.10:c.1453C>T	ENSP00000317144.6:p.Gln485Ter
ENST00000615625.1:c.-135-14617C>T	ENSP00000483286.1:n.-135-14617C>T
ENST00000617689.4:c.1453C>T	ENSP00000478697.1:p.Gln485Ter
XM_011534881.1:c.1540C>T	XP_011533183.1:p.Gln514Ter
XM_011534882.1:c.1540C>T	XP_011533184.1:p.Gln514Ter
XM_011534882.3:c.1540C>T	XP_011533184.1:p.Gln514Ter
XM_011534883.1:c.1540C>T	XP_011533185.1:p.Gln514Ter
XM_011534884.1:c.1540C>T	XP_011533186.1:p.Gln514Ter
XM_011534884.3:c.1540C>T	XP_011533186.1:p.Gln514Ter
XM_011534885.1:c.1171C>T	XP_011533187.1:p.Gln391Ter
XM_011534885.3:c.1171C>T	XP_011533187.1:p.Gln391Ter
XM_011534886.1:c.1410-14617C>T	XP_011533188.1:n.1410-14617C>T
XM_011534886.3:c.1410-14617C>T	XP_011533188.1:n.1410-14617C>T
XM_017020350.2:c.1084C>T	XP_016875839.1:p.Gln362Ter
XM_017020351.2:c.1540C>T	XP_016875840.1:p.Gln514Ter
XM_017020352.2:c.337C>T	XP_016875841.1:p.Gln113Ter
XM_017020354.2:c.250C>T	XP_016875843.1:p.Gln84Ter
XM_024449314.1:c.1453C>T	XP_024305082.1:p.Gln485Ter
XR_001749456.2:n.1804C>T
XR_001749457.2:n.1717C>T
XR_001749458.2:n.1717C>T
XR_001749459.2:n.1717C>T
XR_001749460.2:n.1587-14617C>T
XR_002957449.1:n.1717C>T
XR_941461.1:n.1690C>T
XR_941461.3:n.1804C>T