Canonical Allele Identifier: CA15420715

Gene: MAP3K1

Linked Data

• ClinVar Variation Id: 1267852
• ClinVar RCV Id: RCV001678405
• dbSNP Id: rs72644087
• gnomAD v2: 5-56171391-G-T
• gnomAD v3: 5-56875564-G-T
• gnomAD v4: 5-56875564-G-T
• MyVariant Identifiers: chr5:g.56171391G>T (hg19) ; chr5:g.56875564G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56875564G>T , CM000667.2:g.56875564G>T	GRCh38
NC_000005.9:g.56171391G>T , CM000667.1:g.56171391G>T	GRCh37
NC_000005.8:g.56207148G>T	NCBI36
NG_031884.1:g.65492G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.1965+254G>T MANE Select	ENSP00000382423.3:n.1965+254G>T
ENST00000399503.3:c.1965+254G>T	ENSP00000382423.3:n.1965+254G>T
NM_005921.1:c.1965+254G>T	NP_005912.1:n.1965+254G>T
XM_005248519.3:c.1587+254G>T	XP_005248576.2:n.1587+254G>T
XM_011543406.1:c.1710+254G>T	XP_011541708.1:n.1710+254G>T
XM_011543407.1:c.1686+2559G>T	XP_011541709.1:n.1686+2559G>T
XM_011543408.1:c.1965+254G>T	XP_011541710.1:n.1965+254G>T
XM_017009484.1:c.1554+254G>T	XP_016864973.1:n.1554+254G>T
XM_017009485.1:c.1476+254G>T	XP_016864974.1:n.1476+254G>T
XR_001742068.2:n.1996+254G>T
NM_005921.2:c.1965+254G>T MANE Select	NP_005912.1:n.1965+254G>T