Canonical Allele Identifier: CA7624170
Community Standard Title: NM_002755.4(MAP2K1):c.1138G>A (p.Gly380Ser)
Gene: MAP2K1 HGNC NCBI
SNAPC5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66490571G>A , CM000677.2:g.66490571G>A GRCh38
NC_000015.9:g.66782909G>A , CM000677.1:g.66782909G>A GRCh37
NC_000015.8:g.64569963G>A NCBI36
NG_008305.1:g.108699G>A , LRG_725:g.108699G>A
NG_051234.1:g.12245C>T

Transcript Alleles

HGVS Amino-acid Change
NM_002755.4:c.1138G>A (MAP2K1) MANE Select NP_002746.1:p.Gly380Ser
ENST00000307102.10:c.1138G>A (MAP2K1) MANE Select ENSP00000302486.5:p.Gly380Ser
NM_002755.3:c.1138G>A , LRG_725t1:c.1138G>A (MAP2K1) NP_002746.1:p.Gly380Ser
NM_006049.2:c.*168C>T (SNAPC5) NP_006040.1:n.*168C>T
NM_006049.3:c.*168C>T (SNAPC5) NP_006040.1:n.*168C>T
NM_006049.4:c.*168C>T (SNAPC5) NP_006040.1:n.*168C>T
NR_138061.1:n.687C>T (SNAPC5)
NR_138061.2:n.634C>T (SNAPC5)
ENST00000307102.9:c.1138G>A (MAP2K1) ENSP00000302486.4:p.Gly380Ser
ENST00000395589.6:c.*168C>T (SNAPC5) ENSP00000378954.2:n.*168C>T
ENST00000563480.6:c.*168C>T (SNAPC5) ENSP00000457892.1:n.*168C>T
ENST00000566326.1:c.610G>A (MAP2K1) ENSP00000456438.1:p.Gly204Ser
ENST00000684779.1:c.*186G>A (MAP2K1) ENSP00000508681.1:n.*186G>A
ENST00000685172.1:c.1092G>A (MAP2K1) ENSP00000509604.1:p.Ser364=
ENST00000685763.1:c.991G>A (MAP2K1) ENSP00000509016.1:p.Gly331Ser
ENST00000686347.1:c.811G>A (MAP2K1) ENSP00000509027.1:p.Gly271Ser
ENST00000687191.1:n.3418G>A (MAP2K1)
ENST00000687481.1:n.553G>A (MAP2K1)
ENST00000688689.1:n.893G>A (MAP2K1)
ENST00000689951.1:c.1189G>A (MAP2K1) ENSP00000509308.1:p.Gly397Ser
ENST00000691077.1:c.*2297G>A (MAP2K1) ENSP00000509843.1:n.*2297G>A
ENST00000691576.1:c.1009G>A (MAP2K1) ENSP00000510066.1:p.Gly337Ser
ENST00000691937.1:c.*119G>A (MAP2K1) ENSP00000508768.1:n.*119G>A
ENST00000692487.1:c.*2738G>A (MAP2K1) ENSP00000509534.1:n.*2738G>A
ENST00000692683.1:c.1072G>A (MAP2K1) ENSP00000508437.1:p.Gly358Ser
ENST00000693150.1:c.994G>A (MAP2K1) ENSP00000510309.1:p.Gly332Ser
XM_011521783.1:c.1072G>A (MAP2K1) XP_011520085.1:p.Gly358Ser
XM_011521783.3:c.1072G>A (MAP2K1) XP_011520085.1:p.Gly358Ser
XM_017022411.2:c.1060G>A (MAP2K1) XP_016877900.1:p.Gly354Ser
XM_017022412.1:c.994G>A (MAP2K1) XP_016877901.1:p.Gly332Ser
XM_017022413.1:c.610G>A (MAP2K1) XP_016877902.1:p.Gly204Ser