Canonical Allele Identifier: CA489840191

Gene: MAPKBP1

Linked Data

• dbSNP Id: rs760994582
• gnomAD v3: 15-41819599-G-C
• gnomAD v4: 15-41819599-G-C
• MyVariant Identifiers: chr15:g.42111797G>C (hg19) ; chr15:g.41819599G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.41819599G>C , CM000677.2:g.41819599G>C	GRCh38
NC_000015.9:g.42111797G>C , CM000677.1:g.42111797G>C	GRCh37
NC_000015.8:g.39899089G>C	NCBI36
NG_054745.1:g.50166G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000457542.7:c.2430G>C MANE Select	ENSP00000397570.2:p.Ser810=
ENST00000456763.6:c.2448G>C	ENSP00000393099.2:p.Ser816=
ENST00000457542.6:c.2430G>C	ENSP00000397570.2:p.Ser810=
ENST00000505061.5:n.3093G>C
ENST00000505373.5:c.*1981G>C	ENSP00000421891.1:n.*1981G>C
ENST00000512970.5:c.*1244G>C	ENSP00000427582.1:n.*1244G>C
ENST00000514566.5:c.2430G>C	ENSP00000426154.1:p.Ser810=
NM_001128608.1:c.2448G>C	NP_001122080.1:p.Ser816=
NM_001265611.1:c.2430G>C	NP_001252540.1:p.Ser810=
NM_014994.2:c.2430G>C	NP_055809.2:p.Ser810=
NR_049761.1:n.2526G>C
NR_049762.1:n.2477G>C
XM_006720438.1:c.2283G>C	XP_006720501.1:p.Ser761=
XM_006720439.2:c.699G>C	XP_006720502.1:p.Ser233=
XM_011521382.1:c.2448G>C	XP_011519684.1:p.Ser816=
XM_011521383.1:c.2301G>C	XP_011519685.1:p.Ser767=
XM_011521384.1:c.2448G>C	XP_011519686.1:p.Ser816=
XM_011521385.1:c.2448G>C	XP_011519687.1:p.Ser816=
XM_006720438.2:c.2283G>C	XP_006720501.1:p.Ser761=
XM_011521383.2:c.2301G>C	XP_011519685.1:p.Ser767=
XM_011521384.3:c.2448G>C	XP_011519686.1:p.Ser816=
XM_017022017.1:c.2301G>C	XP_016877506.1:p.Ser767=
XR_001751156.2:n.2696G>C
XR_001751157.2:n.2696G>C
XR_001751159.2:n.2696G>C
NM_014994.3:c.2430G>C MANE Select	NP_055809.2:p.Ser810=
NM_001128608.2:c.2448G>C	NP_001122080.1:p.Ser816=
NM_001265611.2:c.2430G>C	NP_001252540.1:p.Ser810=
NR_049761.2:n.2476G>C
NR_049762.2:n.2427G>C