Canonical Allele Identifier: CA489838404
Gene: MAPKBP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.42109160T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.41816962T>C , CM000677.2:g.41816962T>C GRCh38
NC_000015.9:g.42109160T>C , CM000677.1:g.42109160T>C GRCh37
NC_000015.8:g.39896452T>C NCBI36
NG_054745.1:g.47529T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000457542.7:c.1638T>C MANE Select ENSP00000397570.2:p.Asp546=
ENST00000456763.6:c.1656T>C ENSP00000393099.2:p.Asp552=
ENST00000457542.6:c.1638T>C ENSP00000397570.2:p.Asp546=
ENST00000503526.1:n.425T>C
ENST00000505061.5:n.2086T>C
ENST00000505373.5:c.*1189T>C ENSP00000421891.1:n.*1189T>C
ENST00000512970.5:c.*452T>C ENSP00000427582.1:n.*452T>C
ENST00000514566.5:c.1638T>C ENSP00000426154.1:p.Asp546=
NM_001128608.1:c.1656T>C NP_001122080.1:p.Asp552=
NM_001265611.1:c.1638T>C NP_001252540.1:p.Asp546=
NM_014994.2:c.1638T>C NP_055809.2:p.Asp546=
NR_049761.1:n.1734T>C
NR_049762.1:n.1685T>C
XM_006720438.1:c.1491T>C XP_006720501.1:p.Asp497=
XM_006720439.2:c.-90T>C XP_006720502.1:n.-90T>C
XM_011521382.1:c.1656T>C XP_011519684.1:p.Asp552=
XM_011521383.1:c.1509T>C XP_011519685.1:p.Asp503=
XM_011521384.1:c.1656T>C XP_011519686.1:p.Asp552=
XM_011521385.1:c.1656T>C XP_011519687.1:p.Asp552=
XM_006720438.2:c.1491T>C XP_006720501.1:p.Asp497=
XM_011521383.2:c.1509T>C XP_011519685.1:p.Asp503=
XM_011521384.3:c.1656T>C XP_011519686.1:p.Asp552=
XM_017022017.1:c.1509T>C XP_016877506.1:p.Asp503=
XR_001751156.2:n.1904T>C
XR_001751157.2:n.1904T>C
XR_001751159.2:n.1904T>C
NM_014994.3:c.1638T>C MANE Select NP_055809.2:p.Asp546=
NM_001128608.2:c.1656T>C NP_001122080.1:p.Asp552=
NM_001265611.2:c.1638T>C NP_001252540.1:p.Asp546=
NR_049761.2:n.1684T>C
NR_049762.2:n.1635T>C