Canonical Allele Identifier: CA3755906
Community Standard Title: NM_003190.5(TAPBP):c.348G>T (p.Pro116=)
Gene: TAPBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33313338C>A , CM000668.2:g.33313338C>A GRCh38
NC_000006.11:g.33281115C>A , CM000668.1:g.33281115C>A GRCh37
NC_000006.10:g.33389093C>A NCBI36
NG_009876.1:g.5875G>T , LRG_114:g.5875G>T

Transcript Alleles

HGVS Amino-acid Change
NM_003190.5:c.348G>T MANE Select NP_003181.3:p.Pro116=
ENST00000434618.7:c.348G>T MANE Select ENSP00000395701.2:p.Pro116=
NM_003190.4:c.348G>T , LRG_114t1:c.348G>T NP_003181.3:p.Pro116=
NM_172208.2:c.348G>T NP_757345.2:p.Pro116=
NM_172208.3:c.348G>T NP_757345.2:p.Pro116=
NM_172209.2:c.208+356G>T NP_757346.2:n.208+356G>T
NM_172209.3:c.208+356G>T NP_757346.2:n.208+356G>T
ENST00000426633.6:c.348G>T ENSP00000404833.2:p.Pro116=
ENST00000434618.6:c.348G>T ENSP00000395701.2:p.Pro116=
ENST00000437116.2:n.348G>T
ENST00000456592.3:c.348G>T ENSP00000387803.3:p.Pro116=
ENST00000467025.1:c.177G>T ENSP00000417523.1:p.Pro59=
ENST00000467025.2:c.177G>T ENSP00000417523.2:p.Pro59=
ENST00000475304.5:c.348G>T ENSP00000417949.1:p.Pro116=
ENST00000476333.1:n.402G>T
ENST00000480730.5:n.356G>T
ENST00000489157.5:c.208+356G>T ENSP00000419659.1:n.208+356G>T
ENST00000489157.6:c.208+356G>T ENSP00000419659.1:n.208+356G>T
ENST00000699647.1:n.807G>T
ENST00000699648.1:c.348G>T ENSP00000514499.1:p.Pro116=
ENST00000699650.1:c.72G>T ENSP00000514501.1:p.Pro24=
ENST00000699651.1:c.-84+356G>T ENSP00000514502.1:n.-84+356G>T
ENST00000699652.1:c.348G>T ENSP00000514503.1:p.Pro116=
ENST00000699653.1:n.736G>T
ENST00000699654.1:c.208+356G>T ENSP00000514504.1:n.208+356G>T
ENST00000699655.1:n.561G>T
ENST00000699656.1:c.348G>T ENSP00000514505.1:p.Pro116=
ENST00000699657.1:c.348G>T ENSP00000514506.1:p.Pro116=
ENST00000699659.1:c.348G>T ENSP00000514507.1:p.Pro116=
ENST00000699660.1:n.561G>T
ENST00000699661.1:n.561G>T
ENST00000699662.1:n.192G>T
ENST00000699663.1:n.561G>T
ENST00000699664.1:n.561G>T
XM_011514828.1:c.348G>T XP_011513130.1:p.Pro116=
XM_011514828.3:c.348G>T XP_011513130.1:p.Pro116=
XM_017011227.1:c.348G>T XP_016866716.1:p.Pro116=