Canonical Allele Identifier: CA490862049
Gene: MAP2K1 HGNC NCBI
SNAPC5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.66782908C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66490570C>A , CM000677.2:g.66490570C>A GRCh38
NC_000015.9:g.66782908C>A , CM000677.1:g.66782908C>A GRCh37
NC_000015.8:g.64569962C>A NCBI36
NG_008305.1:g.108698C>A , LRG_725:g.108698C>A
NG_051234.1:g.12246G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.*185C>A (MAP2K1) ENSP00000508681.1:n.*185C>A
ENST00000685172.1:c.1091C>A (MAP2K1) ENSP00000509604.1:p.Ser364Ter
ENST00000685763.1:c.990C>A (MAP2K1) ENSP00000509016.1:p.Ile330=
ENST00000686347.1:c.810C>A (MAP2K1) ENSP00000509027.1:p.Ile270=
ENST00000687191.1:n.3417C>A (MAP2K1)
ENST00000687481.1:n.552C>A (MAP2K1)
ENST00000688689.1:n.892C>A (MAP2K1)
ENST00000689951.1:c.1188C>A (MAP2K1) ENSP00000509308.1:p.Ile396=
ENST00000691077.1:c.*2296C>A (MAP2K1) ENSP00000509843.1:n.*2296C>A
ENST00000691576.1:c.1008C>A (MAP2K1) ENSP00000510066.1:p.Ile336=
ENST00000691937.1:c.*118C>A (MAP2K1) ENSP00000508768.1:n.*118C>A
ENST00000692487.1:c.*2737C>A (MAP2K1) ENSP00000509534.1:n.*2737C>A
ENST00000692683.1:c.1071C>A (MAP2K1) ENSP00000508437.1:p.Ile357=
ENST00000693150.1:c.993C>A (MAP2K1) ENSP00000510309.1:p.Ile331=
ENST00000307102.10:c.1137C>A (MAP2K1) MANE Select ENSP00000302486.5:p.Ile379=
ENST00000307102.9:c.1137C>A (MAP2K1) ENSP00000302486.4:p.Ile379=
ENST00000395589.6:c.*169G>T (SNAPC5) ENSP00000378954.2:n.*169G>T
ENST00000563480.6:c.*169G>T (SNAPC5) ENSP00000457892.1:n.*169G>T
ENST00000566326.1:c.609C>A (MAP2K1) ENSP00000456438.1:p.Ile203=
NM_002755.3:c.1137C>A , LRG_725t1:c.1137C>A (MAP2K1) NP_002746.1:p.Ile379=
NM_006049.2:c.*169G>T (SNAPC5) NP_006040.1:n.*169G>T
XM_011521783.1:c.1071C>A (MAP2K1) XP_011520085.1:p.Ile357=
NM_006049.3:c.*169G>T (SNAPC5) NP_006040.1:n.*169G>T
NR_138061.1:n.688G>T (SNAPC5)
XM_011521783.3:c.1071C>A (MAP2K1) XP_011520085.1:p.Ile357=
XM_017022411.2:c.1059C>A (MAP2K1) XP_016877900.1:p.Ile353=
XM_017022412.1:c.993C>A (MAP2K1) XP_016877901.1:p.Ile331=
XM_017022413.1:c.609C>A (MAP2K1) XP_016877902.1:p.Ile203=
NM_002755.4:c.1137C>A (MAP2K1) MANE Select NP_002746.1:p.Ile379=
NM_006049.4:c.*169G>T (SNAPC5) NP_006040.1:n.*169G>T
NR_138061.2:n.635G>T (SNAPC5)