Canonical Allele Identifier: CA119073430

Gene: MAP3K1

Linked Data

• ClinVar Variation Id: 1545388
• ClinVar RCV Id: RCV002174655
• dbSNP Id: rs867527029
• gnomAD v4: 5-56875271-C-A
• MyVariant Identifiers: chr5:g.56171098C>A (hg19) ; chr5:g.56875271C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56875271C>A , CM000667.2:g.56875271C>A	GRCh38
NC_000005.9:g.56171098C>A , CM000667.1:g.56171098C>A	GRCh37
NC_000005.8:g.56206855C>A	NCBI36
NG_031884.1:g.65199C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.1926C>A MANE Select	ENSP00000382423.3:p.Val642=
ENST00000399503.3:c.1926C>A	ENSP00000382423.3:p.Val642=
NM_005921.1:c.1926C>A	NP_005912.1:p.Val642=
XM_005248519.3:c.1548C>A	XP_005248576.2:p.Val516=
XM_011543406.1:c.1671C>A	XP_011541708.1:p.Val557=
XM_011543407.1:c.1686+2266C>A	XP_011541709.1:n.1686+2266C>A
XM_011543408.1:c.1926C>A	XP_011541710.1:p.Val642=
XM_017009484.1:c.1515C>A	XP_016864973.1:p.Val505=
XM_017009485.1:c.1437C>A	XP_016864974.1:p.Val479=
XR_001742068.2:n.1957C>A
NM_005921.2:c.1926C>A MANE Select	NP_005912.1:p.Val642=