Canonical Allele Identifier: CA2184089915
Gene: MAP2K1 HGNC NCBI
SNAPC5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66490556C= , CM000677.2:g.66490556C= GRCh38
NC_000015.9:g.66782894C= , CM000677.1:g.66782894C= GRCh37
NC_000015.8:g.64569948C= NCBI36
NG_008305.1:g.108684C= , LRG_725:g.108684C=
NG_051234.1:g.12260G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.*171C= (MAP2K1) ENSP00000508681.1:n.*171C=
ENST00000685172.1:c.1077C= (MAP2K1) ENSP00000509604.1:p.Gly359=
ENST00000685763.1:c.976C= (MAP2K1) ENSP00000509016.1:p.Leu326=
ENST00000686347.1:c.796C= (MAP2K1) ENSP00000509027.1:p.Leu266=
ENST00000687191.1:n.3403C= (MAP2K1)
ENST00000687481.1:n.538C= (MAP2K1)
ENST00000688689.1:n.878C= (MAP2K1)
ENST00000689951.1:c.1174C= (MAP2K1) ENSP00000509308.1:p.Leu392=
ENST00000691077.1:c.*2282C= (MAP2K1) ENSP00000509843.1:n.*2282C=
ENST00000691576.1:c.994C= (MAP2K1) ENSP00000510066.1:p.Leu332=
ENST00000691937.1:c.*104C= (MAP2K1) ENSP00000508768.1:n.*104C=
ENST00000692487.1:c.*2723C= (MAP2K1) ENSP00000509534.1:n.*2723C=
ENST00000692683.1:c.1057C= (MAP2K1) ENSP00000508437.1:p.Leu353=
ENST00000693150.1:c.979C= (MAP2K1) ENSP00000510309.1:p.Leu327=
ENST00000307102.10:c.1123C= (MAP2K1) MANE Select ENSP00000302486.5:p.Leu375=
ENST00000307102.9:c.1123C= (MAP2K1) ENSP00000302486.4:p.Leu375=
ENST00000395589.6:c.*183G= (SNAPC5) ENSP00000378954.2:n.*183G=
ENST00000563480.6:c.*183G= (SNAPC5) ENSP00000457892.1:n.*183G=
ENST00000566326.1:c.595C= (MAP2K1) ENSP00000456438.1:p.Leu199=
NM_002755.3:c.1123C= , LRG_725t1:c.1123C= (MAP2K1) NP_002746.1:p.Leu375=
NM_006049.2:c.*183G= (SNAPC5) NP_006040.1:n.*183G=
XM_011521783.1:c.1057C= (MAP2K1) XP_011520085.1:p.Leu353=
NM_006049.3:c.*183G= (SNAPC5) NP_006040.1:n.*183G=
NR_138061.1:n.702G= (SNAPC5)
XM_011521783.3:c.1057C= (MAP2K1) XP_011520085.1:p.Leu353=
XM_017022411.2:c.1045C= (MAP2K1) XP_016877900.1:p.Leu349=
XM_017022412.1:c.979C= (MAP2K1) XP_016877901.1:p.Leu327=
XM_017022413.1:c.595C= (MAP2K1) XP_016877902.1:p.Leu199=
NM_002755.4:c.1123C= (MAP2K1) MANE Select NP_002746.1:p.Leu375=
NM_006049.4:c.*183G= (SNAPC5) NP_006040.1:n.*183G=
NR_138061.2:n.649G= (SNAPC5)