Canonical Allele Identifier: CA359786043
Gene: MAP3K1 HGNC NCBI

Linked Data

dbSNP Id: rs1748214868
gnomAD v3: 5-56881752-G-C
gnomAD v4: 5-56881752-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.56881752G>C , CM000667.2:g.56881752G>C GRCh38
NC_000005.9:g.56177579G>C , CM000667.1:g.56177579G>C GRCh37
NC_000005.8:g.56213336G>C NCBI36
NG_031884.1:g.71680G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000399503.4:c.2552G>C MANE Select ENSP00000382423.3:p.Arg851Thr
ENST00000399503.3:c.2552G>C ENSP00000382423.3:p.Arg851Thr
NM_005921.1:c.2552G>C NP_005912.1:p.Arg851Thr
XM_005248519.3:c.2174G>C XP_005248576.2:p.Arg725Thr
XM_011543406.1:c.2297G>C XP_011541708.1:p.Arg766Thr
XM_011543407.1:c.2273G>C XP_011541709.1:p.Arg758Thr
XM_011543408.1:c.2552G>C XP_011541710.1:p.Arg851Thr
XM_017009484.1:c.2141G>C XP_016864973.1:p.Arg714Thr
XM_017009485.1:c.2063G>C XP_016864974.1:p.Arg688Thr
XR_001742068.2:n.2583G>C
NM_005921.2:c.2552G>C MANE Select NP_005912.1:p.Arg851Thr