Canonical Allele Identifier: CA1337695153
Gene: MLPH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.237527484A= , CM000664.2:g.237527484A= GRCh38
NC_000002.11:g.238436127A= , CM000664.1:g.238436127A= GRCh37
NC_000002.10:g.238100866A= NCBI36
NG_007286.1:g.45198A= , LRG_83:g.45198A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264605.8:c.988A= MANE Select ENSP00000264605.3:p.Lys330=
ENST00000264605.7:c.988A= ENSP00000264605.3:p.Lys330=
ENST00000338530.8:c.988A= ENSP00000341845.4:p.Lys330=
ENST00000409373.5:c.868A= ENSP00000386780.1:p.Lys290=
ENST00000410032.5:c.675+7455A= ENSP00000386338.1:n.675+7455A=
ENST00000415753.5:c.50A=
ENST00000436965.5:c.234A=
ENST00000437893.5:c.300+1679A= ENSP00000412438.1:n.300+1679A=
ENST00000464123.5:n.1053A=
ENST00000468178.5:n.1199A=
ENST00000478712.5:n.667A=
ENST00000482528.1:n.240A=
ENST00000485956.1:n.364A=
ENST00000494110.5:n.668A=
ENST00000495439.5:n.1365A=
NM_001042467.2:c.988A= NP_001035932.1:p.Lys330=
NM_001281473.1:c.868A= NP_001268402.1:p.Lys290=
NM_001281474.1:c.675+7455A= NP_001268403.1:n.675+7455A=
NM_024101.6:c.988A= NP_077006.1:p.Lys330=
NR_104019.1:n.1231A=
XM_006712737.1:c.868A= XP_006712800.1:p.Lys290=
XM_006712739.1:c.988A= XP_006712802.1:p.Lys330=
XM_006712740.1:c.868A= XP_006712803.1:p.Lys290=
XM_011511811.1:c.988A= XP_011510113.1:p.Lys330=
XM_011511812.1:c.553A= XP_011510114.1:p.Lys185=
XR_923025.1:n.1199A=
XM_017004893.1:c.988A= XP_016860382.1:p.Lys330=
XM_017004894.2:c.988A= XP_016860383.1:p.Lys330=
NM_024101.7:c.988A= MANE Select NP_077006.1:p.Lys330=
NM_001042467.3:c.988A= NP_001035932.1:p.Lys330=
NM_001281473.2:c.868A= NP_001268402.1:p.Lys290=
NM_001281474.2:c.675+7455A= NP_001268403.1:n.675+7455A=
NR_104019.2:n.1199A=