Canonical Allele Identifier: CA252145721

Gene: PIBF1

Linked Data

• dbSNP Id: rs1021447475
• gnomAD v3: 13-72835260-A-T
• gnomAD v4: 13-72835260-A-T
• MyVariant Identifiers: chr13:g.73409398A>T (hg19) ; chr13:g.72835260A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.72835260A>T , CM000675.2:g.72835260A>T	GRCh38
NC_000013.10:g.73409398A>T , CM000675.1:g.73409398A>T	GRCh37
NC_000013.9:g.72307399A>T	NCBI36
NG_053118.1:g.58237A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000326291.11:c.1115A>T MANE Select	ENSP00000317144.6:p.Glu372Val
ENST00000326291.10:c.1115A>T	ENSP00000317144.6:p.Glu372Val
ENST00000492803.1:n.379A>T
ENST00000615625.1:c.-244A>T	ENSP00000483286.1:n.-244A>T
ENST00000617689.4:c.1115A>T	ENSP00000478697.1:p.Glu372Val
NM_006346.2:c.1115A>T	NP_006337.2:p.Glu372Val
XM_006719755.2:c.1138A>T	XP_006719818.1:p.Asn380Tyr
XM_011534881.1:c.1115A>T	XP_011533183.1:p.Glu372Val
XM_011534882.1:c.1115A>T	XP_011533184.1:p.Glu372Val
XM_011534883.1:c.1115A>T	XP_011533185.1:p.Glu372Val
XM_011534884.1:c.1115A>T	XP_011533186.1:p.Glu372Val
XM_011534885.1:c.746A>T	XP_011533187.1:p.Glu249Val
XM_011534886.1:c.1115A>T	XP_011533188.1:p.Glu372Val
XR_941461.1:n.1265A>T
NM_001349655.1:c.1115A>T	NP_001336584.1:p.Glu372Val
NM_006346.3:c.1115A>T	NP_006337.2:p.Glu372Val
NR_146205.1:n.1512A>T
NR_146206.1:n.1512A>T
XM_011534882.3:c.1115A>T	XP_011533184.1:p.Glu372Val
XM_011534884.3:c.1115A>T	XP_011533186.1:p.Glu372Val
XM_011534885.3:c.746A>T	XP_011533187.1:p.Glu249Val
XM_011534886.3:c.1115A>T	XP_011533188.1:p.Glu372Val
XM_017020350.2:c.746A>T	XP_016875839.1:p.Glu249Val
XM_017020351.2:c.1115A>T	XP_016875840.1:p.Glu372Val
XM_017020352.2:c.-89A>T	XP_016875841.1:n.-89A>T
XM_017020354.2:c.-89A>T	XP_016875843.1:n.-89A>T
XM_024449314.1:c.1115A>T	XP_024305082.1:p.Glu372Val
XR_001749456.2:n.1379A>T
XR_001749457.2:n.1379A>T
XR_001749458.2:n.1379A>T
XR_001749459.2:n.1379A>T
XR_001749460.2:n.1379A>T
XR_002957449.1:n.1379A>T
XR_941461.3:n.1379A>T
NM_006346.4:c.1115A>T MANE Select	NP_006337.2:p.Glu372Val
NM_001349655.2:c.1115A>T	NP_001336584.1:p.Glu372Val
NR_146205.2:n.1402A>T
NR_146206.2:n.1402A>T