Canonical Allele Identifier: CA359802946
Community Standard Title: NM_005921.2(MAP3K1):c.934A>C (p.Met312Leu)
Gene: MAP3K1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.56864833A>C , CM000667.2:g.56864833A>C GRCh38
NC_000005.9:g.56160660A>C , CM000667.1:g.56160660A>C GRCh37
NC_000005.8:g.56196417A>C NCBI36
NG_031884.1:g.54761A>C

Transcript Alleles

HGVS Amino-acid Change
NM_005921.2:c.934A>C MANE Select NP_005912.1:p.Met312Leu
ENST00000399503.4:c.934A>C MANE Select ENSP00000382423.3:p.Met312Leu
NM_005921.1:c.934A>C NP_005912.1:p.Met312Leu
ENST00000399503.3:c.934A>C ENSP00000382423.3:p.Met312Leu
XM_005248519.3:c.556A>C XP_005248576.2:p.Met186Leu
XM_011543406.1:c.679A>C XP_011541708.1:p.Met227Leu
XM_011543407.1:c.934A>C XP_011541709.1:p.Met312Leu
XM_011543408.1:c.934A>C XP_011541710.1:p.Met312Leu
XM_017009484.1:c.523A>C XP_016864973.1:p.Met175Leu
XM_017009485.1:c.445A>C XP_016864974.1:p.Met149Leu
XR_001742068.2:n.965A>C