Canonical Allele Identifier: CA444391671

Gene: MAP3K1

Linked Data

• gnomAD v4: 5-56859789-C-T
• MyVariant Identifiers: chr5:g.56155616C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56859789C>T , CM000667.2:g.56859789C>T	GRCh38
NC_000005.9:g.56155616C>T , CM000667.1:g.56155616C>T	GRCh37
NC_000005.8:g.56191373C>T	NCBI36
NG_031884.1:g.49717C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.708C>T MANE Select	ENSP00000382423.3:p.Val236=
ENST00000399503.3:c.708C>T	ENSP00000382423.3:p.Val236=
NM_005921.1:c.708C>T	NP_005912.1:p.Val236=
XM_005248519.3:c.330C>T	XP_005248576.2:p.Val110=
XM_011543406.1:c.453C>T	XP_011541708.1:p.Val151=
XM_011543407.1:c.708C>T	XP_011541709.1:p.Val236=
XM_011543408.1:c.708C>T	XP_011541710.1:p.Val236=
XM_017009484.1:c.297C>T	XP_016864973.1:p.Val99=
XM_017009485.1:c.219C>T	XP_016864974.1:p.Val73=
XR_001742068.2:n.739C>T
NM_005921.2:c.708C>T MANE Select	NP_005912.1:p.Val236=