Canonical Allele Identifier: CA359787833
Gene: MAP3K1 HGNC NCBI

Linked Data

gnomAD v4: 5-56882379-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.56882379C>A , CM000667.2:g.56882379C>A GRCh38
NC_000005.9:g.56178206C>A , CM000667.1:g.56178206C>A GRCh37
NC_000005.8:g.56213963C>A NCBI36
NG_031884.1:g.72307C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000399503.4:c.3179C>A MANE Select ENSP00000382423.3:p.Pro1060Gln
ENST00000399503.3:c.3179C>A ENSP00000382423.3:p.Pro1060Gln
NM_005921.1:c.3179C>A NP_005912.1:p.Pro1060Gln
XM_005248519.3:c.2801C>A XP_005248576.2:p.Pro934Gln
XM_011543406.1:c.2924C>A XP_011541708.1:p.Pro975Gln
XM_011543407.1:c.2900C>A XP_011541709.1:p.Pro967Gln
XM_011543408.1:c.3179C>A XP_011541710.1:p.Pro1060Gln
XM_017009484.1:c.2768C>A XP_016864973.1:p.Pro923Gln
XM_017009485.1:c.2690C>A XP_016864974.1:p.Pro897Gln
XR_001742068.2:n.3210C>A
NM_005921.2:c.3179C>A MANE Select NP_005912.1:p.Pro1060Gln