Canonical Allele Identifier: CA2184089911
Gene: MAP2K1 HGNC NCBI
SNAPC5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66490548C= , CM000677.2:g.66490548C= GRCh38
NC_000015.9:g.66782886C= , CM000677.1:g.66782886C= GRCh37
NC_000015.8:g.64569940C= NCBI36
NG_008305.1:g.108676C= , LRG_725:g.108676C=
NG_051234.1:g.12268G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.*163C= (MAP2K1) ENSP00000508681.1:n.*163C=
ENST00000685172.1:c.1069C= (MAP2K1) ENSP00000509604.1:p.Gln357=
ENST00000685763.1:c.968C= (MAP2K1) ENSP00000509016.1:p.Ala323=
ENST00000686347.1:c.788C= (MAP2K1) ENSP00000509027.1:p.Ala263=
ENST00000687191.1:n.3395C= (MAP2K1)
ENST00000687481.1:n.530C= (MAP2K1)
ENST00000688689.1:n.870C= (MAP2K1)
ENST00000689951.1:c.1166C= (MAP2K1) ENSP00000509308.1:p.Ala389=
ENST00000691077.1:c.*2274C= (MAP2K1) ENSP00000509843.1:n.*2274C=
ENST00000691576.1:c.986C= (MAP2K1) ENSP00000510066.1:p.Ala329=
ENST00000691937.1:c.*96C= (MAP2K1) ENSP00000508768.1:n.*96C=
ENST00000692487.1:c.*2715C= (MAP2K1) ENSP00000509534.1:n.*2715C=
ENST00000692683.1:c.1049C= (MAP2K1) ENSP00000508437.1:p.Ala350=
ENST00000693150.1:c.971C= (MAP2K1) ENSP00000510309.1:p.Ala324=
ENST00000307102.10:c.1115C= (MAP2K1) MANE Select ENSP00000302486.5:p.Ala372=
ENST00000307102.9:c.1115C= (MAP2K1) ENSP00000302486.4:p.Ala372=
ENST00000395589.6:c.*191G= (SNAPC5) ENSP00000378954.2:n.*191G=
ENST00000563480.6:c.*191G= (SNAPC5) ENSP00000457892.1:n.*191G=
ENST00000566326.1:c.587C= (MAP2K1) ENSP00000456438.1:p.Ala196=
NM_002755.3:c.1115C= , LRG_725t1:c.1115C= (MAP2K1) NP_002746.1:p.Ala372=
NM_006049.2:c.*191G= (SNAPC5) NP_006040.1:n.*191G=
XM_011521783.1:c.1049C= (MAP2K1) XP_011520085.1:p.Ala350=
NM_006049.3:c.*191G= (SNAPC5) NP_006040.1:n.*191G=
NR_138061.1:n.710G= (SNAPC5)
XM_011521783.3:c.1049C= (MAP2K1) XP_011520085.1:p.Ala350=
XM_017022411.2:c.1037C= (MAP2K1) XP_016877900.1:p.Ala346=
XM_017022412.1:c.971C= (MAP2K1) XP_016877901.1:p.Ala324=
XM_017022413.1:c.587C= (MAP2K1) XP_016877902.1:p.Ala196=
NM_002755.4:c.1115C= (MAP2K1) MANE Select NP_002746.1:p.Ala372=
NM_006049.4:c.*191G= (SNAPC5) NP_006040.1:n.*191G=
NR_138061.2:n.657G= (SNAPC5)