Canonical Allele Identifier: CA444399641

Gene: MAP3K1

Linked Data

• gnomAD v4: 5-56882269-C-T
• MyVariant Identifiers: chr5:g.56178096C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56882269C>T , CM000667.2:g.56882269C>T	GRCh38
NC_000005.9:g.56178096C>T , CM000667.1:g.56178096C>T	GRCh37
NC_000005.8:g.56213853C>T	NCBI36
NG_031884.1:g.72197C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.3069C>T MANE Select	ENSP00000382423.3:p.Arg1023=
ENST00000399503.3:c.3069C>T	ENSP00000382423.3:p.Arg1023=
NM_005921.1:c.3069C>T	NP_005912.1:p.Arg1023=
XM_005248519.3:c.2691C>T	XP_005248576.2:p.Arg897=
XM_011543406.1:c.2814C>T	XP_011541708.1:p.Arg938=
XM_011543407.1:c.2790C>T	XP_011541709.1:p.Arg930=
XM_011543408.1:c.3069C>T	XP_011541710.1:p.Arg1023=
XM_017009484.1:c.2658C>T	XP_016864973.1:p.Arg886=
XM_017009485.1:c.2580C>T	XP_016864974.1:p.Arg860=
XR_001742068.2:n.3100C>T
NM_005921.2:c.3069C>T MANE Select	NP_005912.1:p.Arg1023=