Canonical Allele Identifier: CA119079363

Gene: MAP3K1

Linked Data

• dbSNP Id: rs993287904
• gnomAD v2: 5-56177714-C-T
• gnomAD v3: 5-56881887-C-T
• gnomAD v4: 5-56881887-C-T
• MyVariant Identifiers: chr5:g.56177714C>T (hg19) ; chr5:g.56881887C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56881887C>T , CM000667.2:g.56881887C>T	GRCh38
NC_000005.9:g.56177714C>T , CM000667.1:g.56177714C>T	GRCh37
NC_000005.8:g.56213471C>T	NCBI36
NG_031884.1:g.71815C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.2687C>T MANE Select	ENSP00000382423.3:p.Thr896Ile
ENST00000399503.3:c.2687C>T	ENSP00000382423.3:p.Thr896Ile
NM_005921.1:c.2687C>T	NP_005912.1:p.Thr896Ile
XM_005248519.3:c.2309C>T	XP_005248576.2:p.Thr770Ile
XM_011543406.1:c.2432C>T	XP_011541708.1:p.Thr811Ile
XM_011543407.1:c.2408C>T	XP_011541709.1:p.Thr803Ile
XM_011543408.1:c.2687C>T	XP_011541710.1:p.Thr896Ile
XM_017009484.1:c.2276C>T	XP_016864973.1:p.Thr759Ile
XM_017009485.1:c.2198C>T	XP_016864974.1:p.Thr733Ile
XR_001742068.2:n.2718C>T
NM_005921.2:c.2687C>T MANE Select	NP_005912.1:p.Thr896Ile