Canonical Allele Identifier: CA7497737
Gene: MAPKBP1 HGNC NCBI
ClinVar Variation:
gnomAD v4:
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.41814582A>G , CM000677.2:g.41814582A>G GRCh38
NC_000015.9:g.42106780A>G , CM000677.1:g.42106780A>G GRCh37
NC_000015.8:g.39894072A>G NCBI36
NG_054745.1:g.45149A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000457542.7:c.1013A>G MANE Select ENSP00000397570.2:p.Tyr338Cys
ENST00000456763.6:c.1031A>G ENSP00000393099.2:p.Tyr344Cys
ENST00000457542.6:c.1013A>G ENSP00000397570.2:p.Tyr338Cys
ENST00000502292.5:n.1969A>G
ENST00000505061.5:n.1243A>G
ENST00000505373.5:c.*711A>G ENSP00000421891.1:n.*711A>G
ENST00000512970.5:c.981-677A>G ENSP00000427582.1:n.981-677A>G
ENST00000514566.5:c.1013A>G ENSP00000426154.1:p.Tyr338Cys
NM_001128608.1:c.1031A>G NP_001122080.1:p.Tyr344Cys
NM_001265611.1:c.1013A>G NP_001252540.1:p.Tyr338Cys
NM_014994.2:c.1013A>G NP_055809.2:p.Tyr338Cys
NR_049761.1:n.1267-677A>G
NR_049762.1:n.1207A>G
XM_006720438.1:c.1013A>G XP_006720501.1:p.Tyr338Cys
XM_011521382.1:c.1031A>G XP_011519684.1:p.Tyr344Cys
XM_011521383.1:c.1031A>G XP_011519685.1:p.Tyr344Cys
XM_011521384.1:c.1031A>G XP_011519686.1:p.Tyr344Cys
XM_011521385.1:c.1031A>G XP_011519687.1:p.Tyr344Cys
XM_006720438.2:c.1013A>G XP_006720501.1:p.Tyr338Cys
XM_011521383.2:c.1031A>G XP_011519685.1:p.Tyr344Cys
XM_011521384.3:c.1031A>G XP_011519686.1:p.Tyr344Cys
XM_017022017.1:c.1031A>G XP_016877506.1:p.Tyr344Cys
XR_001751156.2:n.1279A>G
XR_001751157.2:n.1279A>G
XR_001751159.2:n.1279A>G
NM_014994.3:c.1013A>G MANE Select NP_055809.2:p.Tyr338Cys
NM_001128608.2:c.1031A>G NP_001122080.1:p.Tyr344Cys
NM_001265611.2:c.1013A>G NP_001252540.1:p.Tyr338Cys
NR_049761.2:n.1217-677A>G
NR_049762.2:n.1157A>G