Canonical Allele Identifier: CA359787506
Gene: MAP3K1 HGNC NCBI

Linked Data

gnomAD v4: 5-56882231-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.56882231C>A , CM000667.2:g.56882231C>A GRCh38
NC_000005.9:g.56178058C>A , CM000667.1:g.56178058C>A GRCh37
NC_000005.8:g.56213815C>A NCBI36
NG_031884.1:g.72159C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000399503.4:c.3031C>A MANE Select ENSP00000382423.3:p.Pro1011Thr
ENST00000399503.3:c.3031C>A ENSP00000382423.3:p.Pro1011Thr
NM_005921.1:c.3031C>A NP_005912.1:p.Pro1011Thr
XM_005248519.3:c.2653C>A XP_005248576.2:p.Pro885Thr
XM_011543406.1:c.2776C>A XP_011541708.1:p.Pro926Thr
XM_011543407.1:c.2752C>A XP_011541709.1:p.Pro918Thr
XM_011543408.1:c.3031C>A XP_011541710.1:p.Pro1011Thr
XM_017009484.1:c.2620C>A XP_016864973.1:p.Pro874Thr
XM_017009485.1:c.2542C>A XP_016864974.1:p.Pro848Thr
XR_001742068.2:n.3062C>A
NM_005921.2:c.3031C>A MANE Select NP_005912.1:p.Pro1011Thr