Canonical Allele Identifier: CA3272612

Gene: MAP3K1

Linked Data

• ClinVar Variation Id: 772572
• ClinVar RCV Id: RCV000952159 ; RCV001818978 ; RCV003915794
• dbSNP Id: rs73135067
• ExAC: 5:56155751 A / G
• gnomAD v2: 5-56155751-A-G
• gnomAD v3: 5-56859924-A-G
• gnomAD v4: 5-56859924-A-G
• MyVariant Identifiers: chr5:g.56155751A>G (hg19) ; chr5:g.56859924A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56859924A>G , CM000667.2:g.56859924A>G	GRCh38
NC_000005.9:g.56155751A>G , CM000667.1:g.56155751A>G	GRCh37
NC_000005.8:g.56191508A>G	NCBI36
NG_031884.1:g.49852A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.834+9A>G MANE Select	ENSP00000382423.3:n.834+9A>G
ENST00000399503.3:c.834+9A>G	ENSP00000382423.3:n.834+9A>G
NM_005921.1:c.834+9A>G	NP_005912.1:n.834+9A>G
XM_005248519.3:c.456+9A>G	XP_005248576.2:n.456+9A>G
XM_011543406.1:c.579+9A>G	XP_011541708.1:n.579+9A>G
XM_011543407.1:c.834+9A>G	XP_011541709.1:n.834+9A>G
XM_011543408.1:c.834+9A>G	XP_011541710.1:n.834+9A>G
XM_017009484.1:c.423+9A>G	XP_016864973.1:n.423+9A>G
XM_017009485.1:c.345+9A>G	XP_016864974.1:n.345+9A>G
XR_001742068.2:n.865+9A>G
NM_005921.2:c.834+9A>G MANE Select	NP_005912.1:n.834+9A>G