Canonical Allele Identifier: CA392938921
Gene: MAP2K1 HGNC NCBI
SNAPC5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66490536A>T , CM000677.2:g.66490536A>T GRCh38
NC_000015.9:g.66782874A>T , CM000677.1:g.66782874A>T GRCh37
NC_000015.8:g.64569928A>T NCBI36
NG_008305.1:g.108664A>T , LRG_725:g.108664A>T
NG_051234.1:g.12280T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.*151A>T (MAP2K1) ENSP00000508681.1:n.*151A>T
ENST00000685172.1:c.1057A>T (MAP2K1) ENSP00000509604.1:p.Lys353Ter
ENST00000685763.1:c.956A>T (MAP2K1) ENSP00000509016.1:p.Glu319Val
ENST00000686347.1:c.776A>T (MAP2K1) ENSP00000509027.1:p.Glu259Val
ENST00000687191.1:n.3383A>T (MAP2K1)
ENST00000687481.1:n.518A>T (MAP2K1)
ENST00000688689.1:n.858A>T (MAP2K1)
ENST00000689951.1:c.1154A>T (MAP2K1) ENSP00000509308.1:p.Glu385Val
ENST00000691077.1:c.*2262A>T (MAP2K1) ENSP00000509843.1:n.*2262A>T
ENST00000691576.1:c.974A>T (MAP2K1) ENSP00000510066.1:p.Glu325Val
ENST00000691937.1:c.*84A>T (MAP2K1) ENSP00000508768.1:n.*84A>T
ENST00000692487.1:c.*2703A>T (MAP2K1) ENSP00000509534.1:n.*2703A>T
ENST00000692683.1:c.1037A>T (MAP2K1) ENSP00000508437.1:p.Glu346Val
ENST00000693150.1:c.959A>T (MAP2K1) ENSP00000510309.1:p.Glu320Val
ENST00000307102.10:c.1103A>T (MAP2K1) MANE Select ENSP00000302486.5:p.Glu368Val
ENST00000307102.9:c.1103A>T (MAP2K1) ENSP00000302486.4:p.Glu368Val
ENST00000395589.6:c.*203T>A (SNAPC5) ENSP00000378954.2:n.*203T>A
ENST00000563480.6:c.*203T>A (SNAPC5) ENSP00000457892.1:n.*203T>A
ENST00000566326.1:c.575A>T (MAP2K1) ENSP00000456438.1:p.Glu192Val
NM_002755.3:c.1103A>T , LRG_725t1:c.1103A>T (MAP2K1) NP_002746.1:p.Glu368Val
NM_006049.2:c.*203T>A (SNAPC5) NP_006040.1:n.*203T>A
XM_011521783.1:c.1037A>T (MAP2K1) XP_011520085.1:p.Glu346Val
NM_006049.3:c.*203T>A (SNAPC5) NP_006040.1:n.*203T>A
NR_138061.1:n.722T>A (SNAPC5)
XM_011521783.3:c.1037A>T (MAP2K1) XP_011520085.1:p.Glu346Val
XM_017022411.2:c.1025A>T (MAP2K1) XP_016877900.1:p.Glu342Val
XM_017022412.1:c.959A>T (MAP2K1) XP_016877901.1:p.Glu320Val
XM_017022413.1:c.575A>T (MAP2K1) XP_016877902.1:p.Glu192Val
NM_002755.4:c.1103A>T (MAP2K1) MANE Select NP_002746.1:p.Glu368Val
NM_006049.4:c.*203T>A (SNAPC5) NP_006040.1:n.*203T>A
NR_138061.2:n.669T>A (SNAPC5)