Canonical Allele Identifier: CA618958632
Community Standard Title: NM_002755.4(MAP2K1):c.1023-4T>A
Gene: MAP2K1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66489714T>A , CM000677.2:g.66489714T>A GRCh38
NC_000015.9:g.66782052T>A , CM000677.1:g.66782052T>A GRCh37
NC_000015.8:g.64569106T>A NCBI36
NG_008305.1:g.107842T>A , LRG_725:g.107842T>A
NG_051234.1:g.13102A>T

Transcript Alleles

HGVS Amino-acid Change
NM_002755.4:c.1023-4T>A MANE Select NP_002746.1:n.1023-4T>A
ENST00000307102.10:c.1023-4T>A MANE Select ENSP00000302486.5:n.1023-4T>A
NM_002755.3:c.1023-4T>A , LRG_725t1:c.1023-4T>A NP_002746.1:n.1023-4T>A
ENST00000307102.9:c.1023-4T>A ENSP00000302486.4:n.1023-4T>A
ENST00000566326.1:c.495-4T>A ENSP00000456438.1:n.495-4T>A
ENST00000684779.1:c.*71-4T>A ENSP00000508681.1:n.*71-4T>A
ENST00000685172.1:c.1022+438T>A ENSP00000509604.1:n.1022+438T>A
ENST00000685763.1:c.876-4T>A ENSP00000509016.1:n.876-4T>A
ENST00000686347.1:c.696-4T>A ENSP00000509027.1:n.696-4T>A
ENST00000687191.1:n.3303-4T>A
ENST00000687481.1:n.438-4T>A
ENST00000688689.1:n.778-4T>A
ENST00000689951.1:c.1074-4T>A ENSP00000509308.1:n.1074-4T>A
ENST00000691077.1:c.*2182-4T>A ENSP00000509843.1:n.*2182-4T>A
ENST00000691576.1:c.894-4T>A ENSP00000510066.1:n.894-4T>A
ENST00000691937.1:c.*4-4T>A ENSP00000508768.1:n.*4-4T>A
ENST00000692487.1:c.*2619T>A ENSP00000509534.1:n.*2619T>A
ENST00000692683.1:c.957-4T>A ENSP00000508437.1:n.957-4T>A
ENST00000693150.1:c.879-4T>A ENSP00000510309.1:n.879-4T>A
XM_011521783.1:c.957-4T>A XP_011520085.1:n.957-4T>A
XM_011521783.3:c.957-4T>A XP_011520085.1:n.957-4T>A
XM_017022411.2:c.945-4T>A XP_016877900.1:n.945-4T>A
XM_017022412.1:c.879-4T>A XP_016877901.1:n.879-4T>A
XM_017022413.1:c.495-4T>A XP_016877902.1:n.495-4T>A