Canonical Allele Identifier: CA7002435

Gene: PIBF1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.72965328A>G , CM000675.2:g.72965328A>G	GRCh38
NC_000013.10:g.73539466A>G , CM000675.1:g.73539466A>G	GRCh37
NC_000013.9:g.72437467A>G	NCBI36
NG_053118.1:g.188305A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006346.4:c.1888A>G MANE Select	NP_006337.2:p.Ile630Val
ENST00000326291.11:c.1888A>G MANE Select	ENSP00000317144.6:p.Ile630Val
NM_001349655.1:c.1975A>G	NP_001336584.1:p.Ile659Val
NM_001349655.2:c.1975A>G	NP_001336584.1:p.Ile659Val
NM_006346.2:c.1888A>G	NP_006337.2:p.Ile630Val
NM_006346.3:c.1888A>G	NP_006337.2:p.Ile630Val
NR_146205.1:n.2285A>G
NR_146205.2:n.2175A>G
NR_146206.1:n.2285A>G
NR_146206.2:n.2175A>G
ENST00000326291.10:c.1888A>G	ENSP00000317144.6:p.Ile630Val
ENST00000615625.1:c.265A>G	ENSP00000483286.1:p.Ile89Val
ENST00000617689.4:c.1888A>G	ENSP00000478697.1:p.Ile630Val
XM_011534881.1:c.1975A>G	XP_011533183.1:p.Ile659Val
XM_011534882.1:c.1921-33494A>G	XP_011533184.1:n.1921-33494A>G
XM_011534882.3:c.1921-33494A>G	XP_011533184.1:n.1921-33494A>G
XM_011534883.1:c.*55A>G	XP_011533185.1:n.*55A>G
XM_011534885.1:c.1606A>G	XP_011533187.1:p.Ile536Val
XM_011534885.3:c.1606A>G	XP_011533187.1:p.Ile536Val
XM_017020350.2:c.1519A>G	XP_016875839.1:p.Ile507Val
XM_017020352.2:c.772A>G	XP_016875841.1:p.Ile258Val
XM_017020354.2:c.685A>G	XP_016875843.1:p.Ile229Val
XM_024449314.1:c.1834-33494A>G	XP_024305082.1:n.1834-33494A>G
XR_001749456.2:n.2317A>G
XR_001749457.2:n.2152A>G
XR_001749458.2:n.2239A>G
XR_001749459.2:n.2239A>G
XR_001749460.2:n.1986A>G
XR_002957449.1:n.2271A>G
XR_941461.1:n.2125A>G
XR_941461.3:n.2239A>G