Canonical Allele Identifier: CA16043975

Gene: MAPKBP1

Linked Data

• ClinVar Variation Id: 374919
• ClinVar RCV Id: RCV000415552
• dbSNP Id: rs1057519306
• MyVariant Identifiers: chr15:g.42111792G>A (hg19) ; chr15:g.41819594G>A (hg38)
• PubMed: PMID:28089251

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.41819594G>A , CM000677.2:g.41819594G>A	GRCh38
NC_000015.9:g.42111792G>A , CM000677.1:g.42111792G>A	GRCh37
NC_000015.8:g.39899084G>A	NCBI36
NG_054745.1:g.50161G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000457542.7:c.2426-1G>A MANE Select	ENSP00000397570.2:n.2426-1G>A
ENST00000456763.6:c.2444-1G>A	ENSP00000393099.2:n.2444-1G>A
ENST00000457542.6:c.2426-1G>A	ENSP00000397570.2:n.2426-1G>A
ENST00000505061.5:n.3088G>A
ENST00000505373.5:c.*1977-1G>A	ENSP00000421891.1:n.*1977-1G>A
ENST00000512970.5:c.*1240-1G>A	ENSP00000427582.1:n.*1240-1G>A
ENST00000514566.5:c.2426-1G>A	ENSP00000426154.1:n.2426-1G>A
NM_001128608.1:c.2444-1G>A	NP_001122080.1:n.2444-1G>A
NM_001265611.1:c.2426-1G>A	NP_001252540.1:n.2426-1G>A
NM_014994.2:c.2426-1G>A	NP_055809.2:n.2426-1G>A
NR_049761.1:n.2522-1G>A
NR_049762.1:n.2473-1G>A
XM_006720438.1:c.2279-1G>A	XP_006720501.1:n.2279-1G>A
XM_006720439.2:c.695-1G>A	XP_006720502.1:n.695-1G>A
XM_011521382.1:c.2444-1G>A	XP_011519684.1:n.2444-1G>A
XM_011521383.1:c.2297-1G>A	XP_011519685.1:n.2297-1G>A
XM_011521384.1:c.2444-1G>A	XP_011519686.1:n.2444-1G>A
XM_011521385.1:c.2444-1G>A	XP_011519687.1:n.2444-1G>A
XM_006720438.2:c.2279-1G>A	XP_006720501.1:n.2279-1G>A
XM_011521383.2:c.2297-1G>A	XP_011519685.1:n.2297-1G>A
XM_011521384.3:c.2444-1G>A	XP_011519686.1:n.2444-1G>A
XM_017022017.1:c.2297-1G>A	XP_016877506.1:n.2297-1G>A
XR_001751156.2:n.2692-1G>A
XR_001751157.2:n.2692-1G>A
XR_001751159.2:n.2692-1G>A
NM_014994.3:c.2426-1G>A MANE Select	NP_055809.2:n.2426-1G>A
NM_001128608.2:c.2444-1G>A	NP_001122080.1:n.2444-1G>A
NM_001265611.2:c.2426-1G>A	NP_001252540.1:n.2426-1G>A
NR_049761.2:n.2472-1G>A
NR_049762.2:n.2423-1G>A