Canonical Allele Identifier: CA7002398

Gene: PIBF1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.72931227T>G , CM000675.2:g.72931227T>G	GRCh38
NC_000013.10:g.73505365T>G , CM000675.1:g.73505365T>G	GRCh37
NC_000013.9:g.72403366T>G	NCBI36
NG_053118.1:g.154204T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006346.4:c.1793T>G MANE Select	NP_006337.2:p.Leu598Arg
ENST00000326291.11:c.1793T>G MANE Select	ENSP00000317144.6:p.Leu598Arg
NM_001349655.1:c.1880T>G	NP_001336584.1:p.Leu627Arg
NM_001349655.2:c.1880T>G	NP_001336584.1:p.Leu627Arg
NM_006346.2:c.1793T>G	NP_006337.2:p.Leu598Arg
NM_006346.3:c.1793T>G	NP_006337.2:p.Leu598Arg
NR_146205.1:n.2190T>G
NR_146205.2:n.2080T>G
NR_146206.1:n.2190T>G
NR_146206.2:n.2080T>G
ENST00000326291.10:c.1793T>G	ENSP00000317144.6:p.Leu598Arg
ENST00000615625.1:c.170T>G	ENSP00000483286.1:p.Leu57Arg
ENST00000617689.4:c.1793T>G	ENSP00000478697.1:p.Leu598Arg
XM_011534881.1:c.1880T>G	XP_011533183.1:p.Leu627Arg
XM_011534882.1:c.1880T>G	XP_011533184.1:p.Leu627Arg
XM_011534882.3:c.1880T>G	XP_011533184.1:p.Leu627Arg
XM_011534883.1:c.1880T>G	XP_011533185.1:p.Leu627Arg
XM_011534884.1:c.1880T>G	XP_011533186.1:p.Leu627Arg
XM_011534884.3:c.1880T>G	XP_011533186.1:p.Leu627Arg
XM_011534885.1:c.1511T>G	XP_011533187.1:p.Leu504Arg
XM_011534885.3:c.1511T>G	XP_011533187.1:p.Leu504Arg
XM_017020350.2:c.1424T>G	XP_016875839.1:p.Leu475Arg
XM_017020352.2:c.677T>G	XP_016875841.1:p.Leu226Arg
XM_017020354.2:c.590T>G	XP_016875843.1:p.Leu197Arg
XM_024449314.1:c.1793T>G	XP_024305082.1:p.Leu598Arg
XR_001749456.2:n.2144T>G
XR_001749457.2:n.2057T>G
XR_001749458.2:n.2057T>G
XR_001749459.2:n.2057T>G
XR_001749460.2:n.1891T>G
XR_002957449.1:n.2176T>G
XR_941461.1:n.2030T>G
XR_941461.3:n.2144T>G