Canonical Allele Identifier: CA2184089909
Gene: MAP2K1 HGNC NCBI
SNAPC5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66490542A= , CM000677.2:g.66490542A= GRCh38
NC_000015.9:g.66782880A= , CM000677.1:g.66782880A= GRCh37
NC_000015.8:g.64569934A= NCBI36
NG_008305.1:g.108670A= , LRG_725:g.108670A=
NG_051234.1:g.12274T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.*157A= (MAP2K1) ENSP00000508681.1:n.*157A=
ENST00000685172.1:c.1063A= (MAP2K1) ENSP00000509604.1:p.Ile355=
ENST00000685763.1:c.962A= (MAP2K1) ENSP00000509016.1:p.Asp321=
ENST00000686347.1:c.782A= (MAP2K1) ENSP00000509027.1:p.Asp261=
ENST00000687191.1:n.3389A= (MAP2K1)
ENST00000687481.1:n.524A= (MAP2K1)
ENST00000688689.1:n.864A= (MAP2K1)
ENST00000689951.1:c.1160A= (MAP2K1) ENSP00000509308.1:p.Asp387=
ENST00000691077.1:c.*2268A= (MAP2K1) ENSP00000509843.1:n.*2268A=
ENST00000691576.1:c.980A= (MAP2K1) ENSP00000510066.1:p.Asp327=
ENST00000691937.1:c.*90A= (MAP2K1) ENSP00000508768.1:n.*90A=
ENST00000692487.1:c.*2709A= (MAP2K1) ENSP00000509534.1:n.*2709A=
ENST00000692683.1:c.1043A= (MAP2K1) ENSP00000508437.1:p.Asp348=
ENST00000693150.1:c.965A= (MAP2K1) ENSP00000510309.1:p.Asp322=
ENST00000307102.10:c.1109A= (MAP2K1) MANE Select ENSP00000302486.5:p.Asp370=
ENST00000307102.9:c.1109A= (MAP2K1) ENSP00000302486.4:p.Asp370=
ENST00000395589.6:c.*197T= (SNAPC5) ENSP00000378954.2:n.*197T=
ENST00000563480.6:c.*197T= (SNAPC5) ENSP00000457892.1:n.*197T=
ENST00000566326.1:c.581A= (MAP2K1) ENSP00000456438.1:p.Asp194=
NM_002755.3:c.1109A= , LRG_725t1:c.1109A= (MAP2K1) NP_002746.1:p.Asp370=
NM_006049.2:c.*197T= (SNAPC5) NP_006040.1:n.*197T=
XM_011521783.1:c.1043A= (MAP2K1) XP_011520085.1:p.Asp348=
NM_006049.3:c.*197T= (SNAPC5) NP_006040.1:n.*197T=
NR_138061.1:n.716T= (SNAPC5)
XM_011521783.3:c.1043A= (MAP2K1) XP_011520085.1:p.Asp348=
XM_017022411.2:c.1031A= (MAP2K1) XP_016877900.1:p.Asp344=
XM_017022412.1:c.965A= (MAP2K1) XP_016877901.1:p.Asp322=
XM_017022413.1:c.581A= (MAP2K1) XP_016877902.1:p.Asp194=
NM_002755.4:c.1109A= (MAP2K1) MANE Select NP_002746.1:p.Asp370=
NM_006049.4:c.*197T= (SNAPC5) NP_006040.1:n.*197T=
NR_138061.2:n.663T= (SNAPC5)