Canonical Allele Identifier: CA391862798
Gene: MAPKBP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.41816958T>G , CM000677.2:g.41816958T>G GRCh38
NC_000015.9:g.42109156T>G , CM000677.1:g.42109156T>G GRCh37
NC_000015.8:g.39896448T>G NCBI36
NG_054745.1:g.47525T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000457542.7:c.1634T>G MANE Select ENSP00000397570.2:p.Leu545Arg
ENST00000456763.6:c.1652T>G ENSP00000393099.2:p.Leu551Arg
ENST00000457542.6:c.1634T>G ENSP00000397570.2:p.Leu545Arg
ENST00000503526.1:n.421T>G
ENST00000505061.5:n.2082T>G
ENST00000505373.5:c.*1185T>G ENSP00000421891.1:n.*1185T>G
ENST00000512970.5:c.*448T>G ENSP00000427582.1:n.*448T>G
ENST00000514566.5:c.1634T>G ENSP00000426154.1:p.Leu545Arg
NM_001128608.1:c.1652T>G NP_001122080.1:p.Leu551Arg
NM_001265611.1:c.1634T>G NP_001252540.1:p.Leu545Arg
NM_014994.2:c.1634T>G NP_055809.2:p.Leu545Arg
NR_049761.1:n.1730T>G
NR_049762.1:n.1681T>G
XM_006720438.1:c.1487T>G XP_006720501.1:p.Leu496Arg
XM_006720439.2:c.-94T>G XP_006720502.1:n.-94T>G
XM_011521382.1:c.1652T>G XP_011519684.1:p.Leu551Arg
XM_011521383.1:c.1505T>G XP_011519685.1:p.Leu502Arg
XM_011521384.1:c.1652T>G XP_011519686.1:p.Leu551Arg
XM_011521385.1:c.1652T>G XP_011519687.1:p.Leu551Arg
XM_006720438.2:c.1487T>G XP_006720501.1:p.Leu496Arg
XM_011521383.2:c.1505T>G XP_011519685.1:p.Leu502Arg
XM_011521384.3:c.1652T>G XP_011519686.1:p.Leu551Arg
XM_017022017.1:c.1505T>G XP_016877506.1:p.Leu502Arg
XR_001751156.2:n.1900T>G
XR_001751157.2:n.1900T>G
XR_001751159.2:n.1900T>G
NM_014994.3:c.1634T>G MANE Select NP_055809.2:p.Leu545Arg
NM_001128608.2:c.1652T>G NP_001122080.1:p.Leu551Arg
NM_001265611.2:c.1634T>G NP_001252540.1:p.Leu545Arg
NR_049761.2:n.1680T>G
NR_049762.2:n.1631T>G