Canonical Allele Identifier: CA391862815
Gene: MAPKBP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.41816963G>T , CM000677.2:g.41816963G>T GRCh38
NC_000015.9:g.42109161G>T , CM000677.1:g.42109161G>T GRCh37
NC_000015.8:g.39896453G>T NCBI36
NG_054745.1:g.47530G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000457542.7:c.1639G>T MANE Select ENSP00000397570.2:p.Ala547Ser
ENST00000456763.6:c.1657G>T ENSP00000393099.2:p.Ala553Ser
ENST00000457542.6:c.1639G>T ENSP00000397570.2:p.Ala547Ser
ENST00000503526.1:n.426G>T
ENST00000505061.5:n.2087G>T
ENST00000505373.5:c.*1190G>T ENSP00000421891.1:n.*1190G>T
ENST00000512970.5:c.*453G>T ENSP00000427582.1:n.*453G>T
ENST00000514566.5:c.1639G>T ENSP00000426154.1:p.Ala547Ser
NM_001128608.1:c.1657G>T NP_001122080.1:p.Ala553Ser
NM_001265611.1:c.1639G>T NP_001252540.1:p.Ala547Ser
NM_014994.2:c.1639G>T NP_055809.2:p.Ala547Ser
NR_049761.1:n.1735G>T
NR_049762.1:n.1686G>T
XM_006720438.1:c.1492G>T XP_006720501.1:p.Ala498Ser
XM_006720439.2:c.-89G>T XP_006720502.1:n.-89G>T
XM_011521382.1:c.1657G>T XP_011519684.1:p.Ala553Ser
XM_011521383.1:c.1510G>T XP_011519685.1:p.Ala504Ser
XM_011521384.1:c.1657G>T XP_011519686.1:p.Ala553Ser
XM_011521385.1:c.1657G>T XP_011519687.1:p.Ala553Ser
XM_006720438.2:c.1492G>T XP_006720501.1:p.Ala498Ser
XM_011521383.2:c.1510G>T XP_011519685.1:p.Ala504Ser
XM_011521384.3:c.1657G>T XP_011519686.1:p.Ala553Ser
XM_017022017.1:c.1510G>T XP_016877506.1:p.Ala504Ser
XR_001751156.2:n.1905G>T
XR_001751157.2:n.1905G>T
XR_001751159.2:n.1905G>T
NM_014994.3:c.1639G>T MANE Select NP_055809.2:p.Ala547Ser
NM_001128608.2:c.1657G>T NP_001122080.1:p.Ala553Ser
NM_001265611.2:c.1639G>T NP_001252540.1:p.Ala547Ser
NR_049761.2:n.1685G>T
NR_049762.2:n.1636G>T