Canonical Allele Identifier: CA269751241

Gene: MAPKBP1

Linked Data

• dbSNP Id: rs1044357939
• gnomAD v2: 15-42111800-C-G
• gnomAD v3: 15-41819602-C-G
• gnomAD v4: 15-41819602-C-G
• MyVariant Identifiers: chr15:g.42111800C>G (hg19) ; chr15:g.41819602C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.41819602C>G , CM000677.2:g.41819602C>G	GRCh38
NC_000015.9:g.42111800C>G , CM000677.1:g.42111800C>G	GRCh37
NC_000015.8:g.39899092C>G	NCBI36
NG_054745.1:g.50169C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000457542.7:c.2433C>G MANE Select	ENSP00000397570.2:p.Val811=
ENST00000456763.6:c.2451C>G	ENSP00000393099.2:p.Val817=
ENST00000457542.6:c.2433C>G	ENSP00000397570.2:p.Val811=
ENST00000505061.5:n.3096C>G
ENST00000505373.5:c.*1984C>G	ENSP00000421891.1:n.*1984C>G
ENST00000512970.5:c.*1247C>G	ENSP00000427582.1:n.*1247C>G
ENST00000514566.5:c.2433C>G	ENSP00000426154.1:p.Val811=
NM_001128608.1:c.2451C>G	NP_001122080.1:p.Val817=
NM_001265611.1:c.2433C>G	NP_001252540.1:p.Val811=
NM_014994.2:c.2433C>G	NP_055809.2:p.Val811=
NR_049761.1:n.2529C>G
NR_049762.1:n.2480C>G
XM_006720438.1:c.2286C>G	XP_006720501.1:p.Val762=
XM_006720439.2:c.702C>G	XP_006720502.1:p.Val234=
XM_011521382.1:c.2451C>G	XP_011519684.1:p.Val817=
XM_011521383.1:c.2304C>G	XP_011519685.1:p.Val768=
XM_011521384.1:c.2451C>G	XP_011519686.1:p.Val817=
XM_011521385.1:c.2451C>G	XP_011519687.1:p.Val817=
XM_006720438.2:c.2286C>G	XP_006720501.1:p.Val762=
XM_011521383.2:c.2304C>G	XP_011519685.1:p.Val768=
XM_011521384.3:c.2451C>G	XP_011519686.1:p.Val817=
XM_017022017.1:c.2304C>G	XP_016877506.1:p.Val768=
XR_001751156.2:n.2699C>G
XR_001751157.2:n.2699C>G
XR_001751159.2:n.2699C>G
NM_014994.3:c.2433C>G MANE Select	NP_055809.2:p.Val811=
NM_001128608.2:c.2451C>G	NP_001122080.1:p.Val817=
NM_001265611.2:c.2433C>G	NP_001252540.1:p.Val811=
NR_049761.2:n.2479C>G
NR_049762.2:n.2430C>G