Canonical Allele Identifier: CA391853166

Gene: MAPKBP1

Linked Data

• MyVariant Identifiers: chr15:g.42104811A>T (hg19) ; chr15:g.41812613A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.41812613A>T , CM000677.2:g.41812613A>T	GRCh38
NC_000015.9:g.42104811A>T , CM000677.1:g.42104811A>T	GRCh37
NC_000015.8:g.39892103A>T	NCBI36
NG_054745.1:g.43180A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000457542.7:c.596A>T MANE Select	ENSP00000397570.2:p.His199Leu
ENST00000456763.6:c.596A>T	ENSP00000393099.2:p.His199Leu
ENST00000457542.6:c.596A>T	ENSP00000397570.2:p.His199Leu
ENST00000502292.5:n.768A>T
ENST00000505061.5:n.561A>T
ENST00000505373.5:c.*294A>T	ENSP00000421891.1:n.*294A>T
ENST00000512970.5:c.596A>T	ENSP00000427582.1:p.His199Leu
ENST00000514566.5:c.596A>T	ENSP00000426154.1:p.His199Leu
ENST00000515164.1:n.581A>T
NM_001128608.1:c.596A>T	NP_001122080.1:p.His199Leu
NM_001265611.1:c.596A>T	NP_001252540.1:p.His199Leu
NM_014994.2:c.596A>T	NP_055809.2:p.His199Leu
NR_049761.1:n.882A>T
NR_049762.1:n.790A>T
XM_006720438.1:c.596A>T	XP_006720501.1:p.His199Leu
XM_011521382.1:c.596A>T	XP_011519684.1:p.His199Leu
XM_011521383.1:c.596A>T	XP_011519685.1:p.His199Leu
XM_011521384.1:c.596A>T	XP_011519686.1:p.His199Leu
XM_011521385.1:c.596A>T	XP_011519687.1:p.His199Leu
XM_006720438.2:c.596A>T	XP_006720501.1:p.His199Leu
XM_011521383.2:c.596A>T	XP_011519685.1:p.His199Leu
XM_011521384.3:c.596A>T	XP_011519686.1:p.His199Leu
XM_017022017.1:c.596A>T	XP_016877506.1:p.His199Leu
XR_001751156.2:n.844A>T
XR_001751157.2:n.844A>T
XR_001751159.2:n.844A>T
NM_014994.3:c.596A>T MANE Select	NP_055809.2:p.His199Leu
NM_001128608.2:c.596A>T	NP_001122080.1:p.His199Leu
NM_001265611.2:c.596A>T	NP_001252540.1:p.His199Leu
NR_049761.2:n.832A>T
NR_049762.2:n.740A>T