Canonical Allele Identifier: CA391868918
Gene: MAPKBP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.41819601T>C , CM000677.2:g.41819601T>C GRCh38
NC_000015.9:g.42111799T>C , CM000677.1:g.42111799T>C GRCh37
NC_000015.8:g.39899091T>C NCBI36
NG_054745.1:g.50168T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000457542.7:c.2432T>C MANE Select ENSP00000397570.2:p.Val811Ala
ENST00000456763.6:c.2450T>C ENSP00000393099.2:p.Val817Ala
ENST00000457542.6:c.2432T>C ENSP00000397570.2:p.Val811Ala
ENST00000505061.5:n.3095T>C
ENST00000505373.5:c.*1983T>C ENSP00000421891.1:n.*1983T>C
ENST00000512970.5:c.*1246T>C ENSP00000427582.1:n.*1246T>C
ENST00000514566.5:c.2432T>C ENSP00000426154.1:p.Val811Ala
NM_001128608.1:c.2450T>C NP_001122080.1:p.Val817Ala
NM_001265611.1:c.2432T>C NP_001252540.1:p.Val811Ala
NM_014994.2:c.2432T>C NP_055809.2:p.Val811Ala
NR_049761.1:n.2528T>C
NR_049762.1:n.2479T>C
XM_006720438.1:c.2285T>C XP_006720501.1:p.Val762Ala
XM_006720439.2:c.701T>C XP_006720502.1:p.Val234Ala
XM_011521382.1:c.2450T>C XP_011519684.1:p.Val817Ala
XM_011521383.1:c.2303T>C XP_011519685.1:p.Val768Ala
XM_011521384.1:c.2450T>C XP_011519686.1:p.Val817Ala
XM_011521385.1:c.2450T>C XP_011519687.1:p.Val817Ala
XM_006720438.2:c.2285T>C XP_006720501.1:p.Val762Ala
XM_011521383.2:c.2303T>C XP_011519685.1:p.Val768Ala
XM_011521384.3:c.2450T>C XP_011519686.1:p.Val817Ala
XM_017022017.1:c.2303T>C XP_016877506.1:p.Val768Ala
XR_001751156.2:n.2698T>C
XR_001751157.2:n.2698T>C
XR_001751159.2:n.2698T>C
NM_014994.3:c.2432T>C MANE Select NP_055809.2:p.Val811Ala
NM_001128608.2:c.2450T>C NP_001122080.1:p.Val817Ala
NM_001265611.2:c.2432T>C NP_001252540.1:p.Val811Ala
NR_049761.2:n.2478T>C
NR_049762.2:n.2429T>C