Canonical Allele Identifier: CA16043976

Gene: MAPKBP1

Linked Data

• ClinVar Variation Id: 374920
• ClinVar RCV Id: RCV000415598
• dbSNP Id: rs752616462
• MyVariant Identifiers: chr15:g.42113872C>T (hg19) ; chr15:g.41821674C>T (hg38)
• PubMed: PMID:28089251

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.41821674C>T , CM000677.2:g.41821674C>T	GRCh38
NC_000015.9:g.42113872C>T , CM000677.1:g.42113872C>T	GRCh37
NC_000015.8:g.39901164C>T	NCBI36
NG_054745.1:g.52241C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000457542.7:c.2809C>T MANE Select	ENSP00000397570.2:p.Gln937Ter
ENST00000456763.6:c.2827C>T	ENSP00000393099.2:p.Gln943Ter
ENST00000457542.6:c.2809C>T	ENSP00000397570.2:p.Gln937Ter
ENST00000505061.5:n.3472C>T
ENST00000505373.5:c.*2360C>T	ENSP00000421891.1:n.*2360C>T
ENST00000508050.1:n.305C>T
ENST00000512970.5:c.*1623C>T	ENSP00000427582.1:n.*1623C>T
ENST00000514566.5:c.2809C>T	ENSP00000426154.1:p.Gln937Ter
NM_001128608.1:c.2827C>T	NP_001122080.1:p.Gln943Ter
NM_001265611.1:c.2809C>T	NP_001252540.1:p.Gln937Ter
NM_014994.2:c.2809C>T	NP_055809.2:p.Gln937Ter
NR_049761.1:n.2905C>T
NR_049762.1:n.2856C>T
XM_006720438.1:c.2662C>T	XP_006720501.1:p.Gln888Ter
XM_006720439.2:c.1078C>T	XP_006720502.1:p.Gln360Ter
XM_011521382.1:c.2827C>T	XP_011519684.1:p.Gln943Ter
XM_011521383.1:c.2680C>T	XP_011519685.1:p.Gln894Ter
XM_011521384.1:c.2827C>T	XP_011519686.1:p.Gln943Ter
XM_011521385.1:c.2827C>T	XP_011519687.1:p.Gln943Ter
XM_006720438.2:c.2662C>T	XP_006720501.1:p.Gln888Ter
XM_011521383.2:c.2680C>T	XP_011519685.1:p.Gln894Ter
XM_011521384.3:c.2827C>T	XP_011519686.1:p.Gln943Ter
XM_017022017.1:c.2680C>T	XP_016877506.1:p.Gln894Ter
XR_001751156.2:n.3075C>T
XR_001751157.2:n.3075C>T
XR_001751159.2:n.3506C>T
NM_014994.3:c.2809C>T MANE Select	NP_055809.2:p.Gln937Ter
NM_001128608.2:c.2827C>T	NP_001122080.1:p.Gln943Ter
NM_001265611.2:c.2809C>T	NP_001252540.1:p.Gln937Ter
NR_049761.2:n.2855C>T
NR_049762.2:n.2806C>T