Canonical Allele Identifier: CA7002302

Gene: PIBF1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.72908550A>G , CM000675.2:g.72908550A>G	GRCh38
NC_000013.10:g.73482688A>G , CM000675.1:g.73482688A>G	GRCh37
NC_000013.9:g.72380689A>G	NCBI36
NG_053118.1:g.131527A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326291.11:c.1508A>G MANE Select	ENSP00000317144.6:p.Tyr503Cys
ENST00000326291.10:c.1508A>G	ENSP00000317144.6:p.Tyr503Cys
ENST00000615625.1:c.-116A>G	ENSP00000483286.1:n.-116A>G
ENST00000617689.4:c.1508A>G	ENSP00000478697.1:p.Tyr503Cys
NM_006346.2:c.1508A>G	NP_006337.2:p.Tyr503Cys
XM_011534881.1:c.1595A>G	XP_011533183.1:p.Tyr532Cys
XM_011534882.1:c.1595A>G	XP_011533184.1:p.Tyr532Cys
XM_011534883.1:c.1595A>G	XP_011533185.1:p.Tyr532Cys
XM_011534884.1:c.1595A>G	XP_011533186.1:p.Tyr532Cys
XM_011534885.1:c.1226A>G	XP_011533187.1:p.Tyr409Cys
XM_011534886.1:c.*13A>G	XP_011533188.1:n.*13A>G
XR_941461.1:n.1745A>G
NM_001349655.1:c.1595A>G	NP_001336584.1:p.Tyr532Cys
NM_006346.3:c.1508A>G	NP_006337.2:p.Tyr503Cys
NR_146205.1:n.1905A>G
NR_146206.1:n.1905A>G
XM_011534882.3:c.1595A>G	XP_011533184.1:p.Tyr532Cys
XM_011534884.3:c.1595A>G	XP_011533186.1:p.Tyr532Cys
XM_011534885.3:c.1226A>G	XP_011533187.1:p.Tyr409Cys
XM_011534886.3:c.*13A>G	XP_011533188.1:n.*13A>G
XM_017020350.2:c.1139A>G	XP_016875839.1:p.Tyr380Cys
XM_017020351.2:c.1595A>G	XP_016875840.1:p.Tyr532Cys
XM_017020352.2:c.392A>G	XP_016875841.1:p.Tyr131Cys
XM_017020354.2:c.305A>G	XP_016875843.1:p.Tyr102Cys
XM_024449314.1:c.1508A>G	XP_024305082.1:p.Tyr503Cys
XR_001749456.2:n.1859A>G
XR_001749457.2:n.1772A>G
XR_001749458.2:n.1772A>G
XR_001749459.2:n.1772A>G
XR_001749460.2:n.1606A>G
XR_002957449.1:n.1772A>G
XR_941461.3:n.1859A>G
NM_006346.4:c.1508A>G MANE Select	NP_006337.2:p.Tyr503Cys
NM_001349655.2:c.1595A>G	NP_001336584.1:p.Tyr532Cys
NR_146205.2:n.1795A>G
NR_146206.2:n.1795A>G