Canonical Allele Identifier: CA7498716

Gene: MAPKBP1

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.41823878G>T , CM000677.2:g.41823878G>T	GRCh38
NC_000015.9:g.42116076G>T , CM000677.1:g.42116076G>T	GRCh37
NC_000015.8:g.39903368G>T	NCBI36
NG_029927.1:g.794G>T
NG_054745.1:g.54445G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000457542.7:c.4030G>T MANE Select	ENSP00000397570.2:p.Gly1344Cys
ENST00000456763.6:c.4048G>T	ENSP00000393099.2:p.Gly1350Cys
ENST00000457542.6:c.4030G>T	ENSP00000397570.2:p.Gly1344Cys
ENST00000505061.5:n.4693G>T
ENST00000505373.5:c.*3581G>T	ENSP00000421891.1:n.*3581G>T
ENST00000512970.5:c.*2844G>T	ENSP00000427582.1:n.*2844G>T
ENST00000514566.5:c.3383-606G>T	ENSP00000426154.1:n.3383-606G>T
NM_001128608.1:c.4048G>T	NP_001122080.1:p.Gly1350Cys
NM_001265611.1:c.3383-606G>T	NP_001252540.1:n.3383-606G>T
NM_014994.2:c.4030G>T	NP_055809.2:p.Gly1344Cys
NR_049761.1:n.4126G>T
NR_049762.1:n.4077G>T
XM_006720438.1:c.3883G>T	XP_006720501.1:p.Gly1295Cys
XM_006720439.2:c.2299G>T	XP_006720502.1:p.Gly767Cys
XM_011521382.1:c.4048G>T	XP_011519684.1:p.Gly1350Cys
XM_011521383.1:c.3901G>T	XP_011519685.1:p.Gly1301Cys
XM_011521384.1:c.4048G>T	XP_011519686.1:p.Gly1350Cys
XM_006720438.2:c.3883G>T	XP_006720501.1:p.Gly1295Cys
XM_011521383.2:c.3901G>T	XP_011519685.1:p.Gly1301Cys
XM_011521384.3:c.4048G>T	XP_011519686.1:p.Gly1350Cys
XM_017022017.1:c.3901G>T	XP_016877506.1:p.Gly1301Cys
XR_001751156.2:n.4282G>T
XR_001751157.2:n.4282G>T
XR_001751159.2:n.4727G>T
NM_014994.3:c.4030G>T MANE Select	NP_055809.2:p.Gly1344Cys
NM_001128608.2:c.4048G>T	NP_001122080.1:p.Gly1350Cys
NM_001265611.2:c.3383-606G>T	NP_001252540.1:n.3383-606G>T
NR_049761.2:n.4076G>T
NR_049762.2:n.4027G>T