Canonical Allele Identifier: CA388272517

Gene: PIBF1

Linked Data

• MyVariant Identifiers: chr13:g.73409409A>C (hg19) ; chr13:g.72835271A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.72835271A>C , CM000675.2:g.72835271A>C	GRCh38
NC_000013.10:g.73409409A>C , CM000675.1:g.73409409A>C	GRCh37
NC_000013.9:g.72307410A>C	NCBI36
NG_053118.1:g.58248A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000326291.11:c.1126A>C MANE Select	ENSP00000317144.6:p.Lys376Gln
ENST00000326291.10:c.1126A>C	ENSP00000317144.6:p.Lys376Gln
ENST00000492803.1:n.390A>C
ENST00000615625.1:c.-233A>C	ENSP00000483286.1:n.-233A>C
ENST00000617689.4:c.1126A>C	ENSP00000478697.1:p.Lys376Gln
NM_006346.2:c.1126A>C	NP_006337.2:p.Lys376Gln
XM_006719755.2:c.1149A>C	XP_006719818.1:p.Ile383=
XM_011534881.1:c.1126A>C	XP_011533183.1:p.Lys376Gln
XM_011534882.1:c.1126A>C	XP_011533184.1:p.Lys376Gln
XM_011534883.1:c.1126A>C	XP_011533185.1:p.Lys376Gln
XM_011534884.1:c.1126A>C	XP_011533186.1:p.Lys376Gln
XM_011534885.1:c.757A>C	XP_011533187.1:p.Lys253Gln
XM_011534886.1:c.1126A>C	XP_011533188.1:p.Lys376Gln
XR_941461.1:n.1276A>C
NM_001349655.1:c.1126A>C	NP_001336584.1:p.Lys376Gln
NM_006346.3:c.1126A>C	NP_006337.2:p.Lys376Gln
NR_146205.1:n.1523A>C
NR_146206.1:n.1523A>C
XM_011534882.3:c.1126A>C	XP_011533184.1:p.Lys376Gln
XM_011534884.3:c.1126A>C	XP_011533186.1:p.Lys376Gln
XM_011534885.3:c.757A>C	XP_011533187.1:p.Lys253Gln
XM_011534886.3:c.1126A>C	XP_011533188.1:p.Lys376Gln
XM_017020350.2:c.757A>C	XP_016875839.1:p.Lys253Gln
XM_017020351.2:c.1126A>C	XP_016875840.1:p.Lys376Gln
XM_017020352.2:c.-78A>C	XP_016875841.1:n.-78A>C
XM_017020354.2:c.-78A>C	XP_016875843.1:n.-78A>C
XM_024449314.1:c.1126A>C	XP_024305082.1:p.Lys376Gln
XR_001749456.2:n.1390A>C
XR_001749457.2:n.1390A>C
XR_001749458.2:n.1390A>C
XR_001749459.2:n.1390A>C
XR_001749460.2:n.1390A>C
XR_002957449.1:n.1390A>C
XR_941461.3:n.1390A>C
NM_006346.4:c.1126A>C MANE Select	NP_006337.2:p.Lys376Gln
NM_001349655.2:c.1126A>C	NP_001336584.1:p.Lys376Gln
NR_146205.2:n.1413A>C
NR_146206.2:n.1413A>C