Canonical Allele Identifier: CA489840188
Gene: MAPKBP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.42111794C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.41819596C>G , CM000677.2:g.41819596C>G GRCh38
NC_000015.9:g.42111794C>G , CM000677.1:g.42111794C>G GRCh37
NC_000015.8:g.39899086C>G NCBI36
NG_054745.1:g.50163C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000457542.7:c.2427C>G MANE Select ENSP00000397570.2:p.Ala809=
ENST00000456763.6:c.2445C>G ENSP00000393099.2:p.Ala815=
ENST00000457542.6:c.2427C>G ENSP00000397570.2:p.Ala809=
ENST00000505061.5:n.3090C>G
ENST00000505373.5:c.*1978C>G ENSP00000421891.1:n.*1978C>G
ENST00000512970.5:c.*1241C>G ENSP00000427582.1:n.*1241C>G
ENST00000514566.5:c.2427C>G ENSP00000426154.1:p.Ala809=
NM_001128608.1:c.2445C>G NP_001122080.1:p.Ala815=
NM_001265611.1:c.2427C>G NP_001252540.1:p.Ala809=
NM_014994.2:c.2427C>G NP_055809.2:p.Ala809=
NR_049761.1:n.2523C>G
NR_049762.1:n.2474C>G
XM_006720438.1:c.2280C>G XP_006720501.1:p.Ala760=
XM_006720439.2:c.696C>G XP_006720502.1:p.Ala232=
XM_011521382.1:c.2445C>G XP_011519684.1:p.Ala815=
XM_011521383.1:c.2298C>G XP_011519685.1:p.Ala766=
XM_011521384.1:c.2445C>G XP_011519686.1:p.Ala815=
XM_011521385.1:c.2445C>G XP_011519687.1:p.Ala815=
XM_006720438.2:c.2280C>G XP_006720501.1:p.Ala760=
XM_011521383.2:c.2298C>G XP_011519685.1:p.Ala766=
XM_011521384.3:c.2445C>G XP_011519686.1:p.Ala815=
XM_017022017.1:c.2298C>G XP_016877506.1:p.Ala766=
XR_001751156.2:n.2693C>G
XR_001751157.2:n.2693C>G
XR_001751159.2:n.2693C>G
NM_014994.3:c.2427C>G MANE Select NP_055809.2:p.Ala809=
NM_001128608.2:c.2445C>G NP_001122080.1:p.Ala815=
NM_001265611.2:c.2427C>G NP_001252540.1:p.Ala809=
NR_049761.2:n.2473C>G
NR_049762.2:n.2424C>G