Canonical Allele Identifier: CA490862048
Gene: MAP2K1 HGNC NCBI
SNAPC5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.66782905C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66490567C>G , CM000677.2:g.66490567C>G GRCh38
NC_000015.9:g.66782905C>G , CM000677.1:g.66782905C>G GRCh37
NC_000015.8:g.64569959C>G NCBI36
NG_008305.1:g.108695C>G , LRG_725:g.108695C>G
NG_051234.1:g.12249G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.*182C>G (MAP2K1) ENSP00000508681.1:n.*182C>G
ENST00000685172.1:c.1088C>G (MAP2K1) ENSP00000509604.1:p.Pro363Arg
ENST00000685763.1:c.987C>G (MAP2K1) ENSP00000509016.1:p.Thr329=
ENST00000686347.1:c.807C>G (MAP2K1) ENSP00000509027.1:p.Thr269=
ENST00000687191.1:n.3414C>G (MAP2K1)
ENST00000687481.1:n.549C>G (MAP2K1)
ENST00000688689.1:n.889C>G (MAP2K1)
ENST00000689951.1:c.1185C>G (MAP2K1) ENSP00000509308.1:p.Thr395=
ENST00000691077.1:c.*2293C>G (MAP2K1) ENSP00000509843.1:n.*2293C>G
ENST00000691576.1:c.1005C>G (MAP2K1) ENSP00000510066.1:p.Thr335=
ENST00000691937.1:c.*115C>G (MAP2K1) ENSP00000508768.1:n.*115C>G
ENST00000692487.1:c.*2734C>G (MAP2K1) ENSP00000509534.1:n.*2734C>G
ENST00000692683.1:c.1068C>G (MAP2K1) ENSP00000508437.1:p.Thr356=
ENST00000693150.1:c.990C>G (MAP2K1) ENSP00000510309.1:p.Thr330=
ENST00000307102.10:c.1134C>G (MAP2K1) MANE Select ENSP00000302486.5:p.Thr378=
ENST00000307102.9:c.1134C>G (MAP2K1) ENSP00000302486.4:p.Thr378=
ENST00000395589.6:c.*172G>C (SNAPC5) ENSP00000378954.2:n.*172G>C
ENST00000563480.6:c.*172G>C (SNAPC5) ENSP00000457892.1:n.*172G>C
ENST00000566326.1:c.606C>G (MAP2K1) ENSP00000456438.1:p.Thr202=
NM_002755.3:c.1134C>G , LRG_725t1:c.1134C>G (MAP2K1) NP_002746.1:p.Thr378=
NM_006049.2:c.*172G>C (SNAPC5) NP_006040.1:n.*172G>C
XM_011521783.1:c.1068C>G (MAP2K1) XP_011520085.1:p.Thr356=
NM_006049.3:c.*172G>C (SNAPC5) NP_006040.1:n.*172G>C
NR_138061.1:n.691G>C (SNAPC5)
XM_011521783.3:c.1068C>G (MAP2K1) XP_011520085.1:p.Thr356=
XM_017022411.2:c.1056C>G (MAP2K1) XP_016877900.1:p.Thr352=
XM_017022412.1:c.990C>G (MAP2K1) XP_016877901.1:p.Thr330=
XM_017022413.1:c.606C>G (MAP2K1) XP_016877902.1:p.Thr202=
NM_002755.4:c.1134C>G (MAP2K1) MANE Select NP_002746.1:p.Thr378=
NM_006049.4:c.*172G>C (SNAPC5) NP_006040.1:n.*172G>C
NR_138061.2:n.638G>C (SNAPC5)