Canonical Allele Identifier: CA392938936
Gene: MAP2K1 HGNC NCBI
SNAPC5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66490539T>A , CM000677.2:g.66490539T>A GRCh38
NC_000015.9:g.66782877T>A , CM000677.1:g.66782877T>A GRCh37
NC_000015.8:g.64569931T>A NCBI36
NG_008305.1:g.108667T>A , LRG_725:g.108667T>A
NG_051234.1:g.12277A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.*154T>A (MAP2K1) ENSP00000508681.1:n.*154T>A
ENST00000685172.1:c.1060T>A (MAP2K1) ENSP00000509604.1:p.Trp354Arg
ENST00000685763.1:c.959T>A (MAP2K1) ENSP00000509016.1:p.Val320Glu
ENST00000686347.1:c.779T>A (MAP2K1) ENSP00000509027.1:p.Val260Glu
ENST00000687191.1:n.3386T>A (MAP2K1)
ENST00000687481.1:n.521T>A (MAP2K1)
ENST00000688689.1:n.861T>A (MAP2K1)
ENST00000689951.1:c.1157T>A (MAP2K1) ENSP00000509308.1:p.Val386Glu
ENST00000691077.1:c.*2265T>A (MAP2K1) ENSP00000509843.1:n.*2265T>A
ENST00000691576.1:c.977T>A (MAP2K1) ENSP00000510066.1:p.Val326Glu
ENST00000691937.1:c.*87T>A (MAP2K1) ENSP00000508768.1:n.*87T>A
ENST00000692487.1:c.*2706T>A (MAP2K1) ENSP00000509534.1:n.*2706T>A
ENST00000692683.1:c.1040T>A (MAP2K1) ENSP00000508437.1:p.Val347Glu
ENST00000693150.1:c.962T>A (MAP2K1) ENSP00000510309.1:p.Val321Glu
ENST00000307102.10:c.1106T>A (MAP2K1) MANE Select ENSP00000302486.5:p.Val369Glu
ENST00000307102.9:c.1106T>A (MAP2K1) ENSP00000302486.4:p.Val369Glu
ENST00000395589.6:c.*200A>T (SNAPC5) ENSP00000378954.2:n.*200A>T
ENST00000563480.6:c.*200A>T (SNAPC5) ENSP00000457892.1:n.*200A>T
ENST00000566326.1:c.578T>A (MAP2K1) ENSP00000456438.1:p.Val193Glu
NM_002755.3:c.1106T>A , LRG_725t1:c.1106T>A (MAP2K1) NP_002746.1:p.Val369Glu
NM_006049.2:c.*200A>T (SNAPC5) NP_006040.1:n.*200A>T
XM_011521783.1:c.1040T>A (MAP2K1) XP_011520085.1:p.Val347Glu
NM_006049.3:c.*200A>T (SNAPC5) NP_006040.1:n.*200A>T
NR_138061.1:n.719A>T (SNAPC5)
XM_011521783.3:c.1040T>A (MAP2K1) XP_011520085.1:p.Val347Glu
XM_017022411.2:c.1028T>A (MAP2K1) XP_016877900.1:p.Val343Glu
XM_017022412.1:c.962T>A (MAP2K1) XP_016877901.1:p.Val321Glu
XM_017022413.1:c.578T>A (MAP2K1) XP_016877902.1:p.Val193Glu
NM_002755.4:c.1106T>A (MAP2K1) MANE Select NP_002746.1:p.Val369Glu
NM_006049.4:c.*200A>T (SNAPC5) NP_006040.1:n.*200A>T
NR_138061.2:n.666A>T (SNAPC5)