Canonical Allele Identifier: CA392937378
Gene: MAP2K1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66485156C>T , CM000677.2:g.66485156C>T GRCh38
NC_000015.9:g.66777494C>T , CM000677.1:g.66777494C>T GRCh37
NC_000015.8:g.64564548C>T NCBI36
NG_008305.1:g.103284C>T , LRG_725:g.103284C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000684779.1:c.628-2072C>T ENSP00000508681.1:n.628-2072C>T
ENST00000685172.1:c.860C>T ENSP00000509604.1:p.Pro287Leu
ENST00000685763.1:c.713C>T ENSP00000509016.1:p.Pro238Leu
ENST00000686347.1:c.569-2072C>T ENSP00000509027.1:n.569-2072C>T
ENST00000687191.1:n.1218C>T
ENST00000687481.1:n.275C>T
ENST00000689951.1:c.911C>T ENSP00000509308.1:p.Pro304Leu
ENST00000691077.1:c.*97C>T ENSP00000509843.1:n.*97C>T
ENST00000691576.1:c.731C>T ENSP00000510066.1:p.Pro244Leu
ENST00000691937.1:c.860C>T ENSP00000508768.1:p.Pro287Leu
ENST00000692487.1:c.*97C>T ENSP00000509534.1:n.*97C>T
ENST00000692683.1:c.794C>T ENSP00000508437.1:p.Pro265Leu
ENST00000693150.1:c.716C>T ENSP00000510309.1:p.Pro239Leu
ENST00000307102.10:c.860C>T MANE Select ENSP00000302486.5:p.Pro287Leu
ENST00000307102.9:c.860C>T ENSP00000302486.4:p.Pro287Leu
ENST00000566326.1:c.332C>T ENSP00000456438.1:p.Pro111Leu
NM_002755.3:c.860C>T , LRG_725t1:c.860C>T NP_002746.1:p.Pro287Leu
XM_011521783.1:c.794C>T XP_011520085.1:p.Pro265Leu
XM_011521783.3:c.794C>T XP_011520085.1:p.Pro265Leu
XM_017022411.2:c.782C>T XP_016877900.1:p.Pro261Leu
XM_017022412.1:c.716C>T XP_016877901.1:p.Pro239Leu
XM_017022413.1:c.332C>T XP_016877902.1:p.Pro111Leu
NM_002755.4:c.860C>T MANE Select NP_002746.1:p.Pro287Leu