Canonical Allele Identifier: CA392939080
Gene: MAP2K1 HGNC NCBI
SNAPC5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66490574C>G , CM000677.2:g.66490574C>G GRCh38
NC_000015.9:g.66782912C>G , CM000677.1:g.66782912C>G GRCh37
NC_000015.8:g.64569966C>G NCBI36
NG_008305.1:g.108702C>G , LRG_725:g.108702C>G
NG_051234.1:g.12242G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.*189C>G (MAP2K1) ENSP00000508681.1:n.*189C>G
ENST00000685172.1:c.1095C>G (MAP2K1) ENSP00000509604.1:p.Ala365=
ENST00000685763.1:c.994C>G (MAP2K1) ENSP00000509016.1:p.Leu332Val
ENST00000686347.1:c.814C>G (MAP2K1) ENSP00000509027.1:p.Leu272Val
ENST00000687191.1:n.3421C>G (MAP2K1)
ENST00000687481.1:n.556C>G (MAP2K1)
ENST00000688689.1:n.896C>G (MAP2K1)
ENST00000689951.1:c.1192C>G (MAP2K1) ENSP00000509308.1:p.Leu398Val
ENST00000691077.1:c.*2300C>G (MAP2K1) ENSP00000509843.1:n.*2300C>G
ENST00000691576.1:c.1012C>G (MAP2K1) ENSP00000510066.1:p.Leu338Val
ENST00000691937.1:c.*122C>G (MAP2K1) ENSP00000508768.1:n.*122C>G
ENST00000692487.1:c.*2741C>G (MAP2K1) ENSP00000509534.1:n.*2741C>G
ENST00000692683.1:c.1075C>G (MAP2K1) ENSP00000508437.1:p.Leu359Val
ENST00000693150.1:c.997C>G (MAP2K1) ENSP00000510309.1:p.Leu333Val
ENST00000307102.10:c.1141C>G (MAP2K1) MANE Select ENSP00000302486.5:p.Leu381Val
ENST00000307102.9:c.1141C>G (MAP2K1) ENSP00000302486.4:p.Leu381Val
ENST00000395589.6:c.*165G>C (SNAPC5) ENSP00000378954.2:n.*165G>C
ENST00000563480.6:c.*165G>C (SNAPC5) ENSP00000457892.1:n.*165G>C
ENST00000566326.1:c.613C>G (MAP2K1) ENSP00000456438.1:p.Leu205Val
NM_002755.3:c.1141C>G , LRG_725t1:c.1141C>G (MAP2K1) NP_002746.1:p.Leu381Val
NM_006049.2:c.*165G>C (SNAPC5) NP_006040.1:n.*165G>C
XM_011521783.1:c.1075C>G (MAP2K1) XP_011520085.1:p.Leu359Val
NM_006049.3:c.*165G>C (SNAPC5) NP_006040.1:n.*165G>C
NR_138061.1:n.684G>C (SNAPC5)
XM_011521783.3:c.1075C>G (MAP2K1) XP_011520085.1:p.Leu359Val
XM_017022411.2:c.1063C>G (MAP2K1) XP_016877900.1:p.Leu355Val
XM_017022412.1:c.997C>G (MAP2K1) XP_016877901.1:p.Leu333Val
XM_017022413.1:c.613C>G (MAP2K1) XP_016877902.1:p.Leu205Val
NM_002755.4:c.1141C>G (MAP2K1) MANE Select NP_002746.1:p.Leu381Val
NM_006049.4:c.*165G>C (SNAPC5) NP_006040.1:n.*165G>C
NR_138061.2:n.631G>C (SNAPC5)