Canonical Allele Identifier: CA392939138
Gene: MAP2K1 HGNC NCBI
SNAPC5 HGNC NCBI

Linked Data

dbSNP Id: rs1199306921

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66490586A>C , CM000677.2:g.66490586A>C GRCh38
NC_000015.9:g.66782924A>C , CM000677.1:g.66782924A>C GRCh37
NC_000015.8:g.64569978A>C NCBI36
NG_008305.1:g.108714A>C , LRG_725:g.108714A>C
NG_051234.1:g.12230T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.*201A>C (MAP2K1) ENSP00000508681.1:n.*201A>C
ENST00000685172.1:c.1107A>C (MAP2K1) ENSP00000509604.1:p.Pro369=
ENST00000685763.1:c.1006A>C (MAP2K1) ENSP00000509016.1:p.Ser336Arg
ENST00000686347.1:c.826A>C (MAP2K1) ENSP00000509027.1:p.Ser276Arg
ENST00000687191.1:n.3433A>C (MAP2K1)
ENST00000687481.1:n.568A>C (MAP2K1)
ENST00000688689.1:n.908A>C (MAP2K1)
ENST00000689951.1:c.1204A>C (MAP2K1) ENSP00000509308.1:p.Ser402Arg
ENST00000691077.1:c.*2312A>C (MAP2K1) ENSP00000509843.1:n.*2312A>C
ENST00000691576.1:c.1024A>C (MAP2K1) ENSP00000510066.1:p.Ser342Arg
ENST00000691937.1:c.*134A>C (MAP2K1) ENSP00000508768.1:n.*134A>C
ENST00000692487.1:c.*2753A>C (MAP2K1) ENSP00000509534.1:n.*2753A>C
ENST00000692683.1:c.1087A>C (MAP2K1) ENSP00000508437.1:p.Ser363Arg
ENST00000693150.1:c.1009A>C (MAP2K1) ENSP00000510309.1:p.Ser337Arg
ENST00000307102.10:c.1153A>C (MAP2K1) MANE Select ENSP00000302486.5:p.Ser385Arg
ENST00000307102.9:c.1153A>C (MAP2K1) ENSP00000302486.4:p.Ser385Arg
ENST00000395589.6:c.*153T>G (SNAPC5) ENSP00000378954.2:n.*153T>G
ENST00000563480.6:c.*153T>G (SNAPC5) ENSP00000457892.1:n.*153T>G
ENST00000566326.1:c.625A>C (MAP2K1) ENSP00000456438.1:p.Ser209Arg
NM_002755.3:c.1153A>C , LRG_725t1:c.1153A>C (MAP2K1) NP_002746.1:p.Ser385Arg
NM_006049.2:c.*153T>G (SNAPC5) NP_006040.1:n.*153T>G
XM_011521783.1:c.1087A>C (MAP2K1) XP_011520085.1:p.Ser363Arg
NM_006049.3:c.*153T>G (SNAPC5) NP_006040.1:n.*153T>G
NR_138061.1:n.672T>G (SNAPC5)
XM_011521783.3:c.1087A>C (MAP2K1) XP_011520085.1:p.Ser363Arg
XM_017022411.2:c.1075A>C (MAP2K1) XP_016877900.1:p.Ser359Arg
XM_017022412.1:c.1009A>C (MAP2K1) XP_016877901.1:p.Ser337Arg
XM_017022413.1:c.625A>C (MAP2K1) XP_016877902.1:p.Ser209Arg
NM_002755.4:c.1153A>C (MAP2K1) MANE Select NP_002746.1:p.Ser385Arg
NM_006049.4:c.*153T>G (SNAPC5) NP_006040.1:n.*153T>G
NR_138061.2:n.619T>G (SNAPC5)