Canonical Allele Identifier: CA3273007

Gene: MAP3K1

Linked Data

• ClinVar Variation Id: 1652628
• ClinVar RCV Id: RCV002154540
• dbSNP Id: rs763246417
• ExAC: 5:56177506 G / A
• gnomAD v2: 5-56177506-G-A
• gnomAD v3: 5-56881679-G-A
• gnomAD v4: 5-56881679-G-A
• MyVariant Identifiers: chr5:g.56177506G>A (hg19) ; chr5:g.56881679G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56881679G>A , CM000667.2:g.56881679G>A	GRCh38
NC_000005.9:g.56177506G>A , CM000667.1:g.56177506G>A	GRCh37
NC_000005.8:g.56213263G>A	NCBI36
NG_031884.1:g.71607G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.2479G>A MANE Select	ENSP00000382423.3:p.Val827Ile
ENST00000399503.3:c.2479G>A	ENSP00000382423.3:p.Val827Ile
NM_005921.1:c.2479G>A	NP_005912.1:p.Val827Ile
XM_005248519.3:c.2101G>A	XP_005248576.2:p.Val701Ile
XM_011543406.1:c.2224G>A	XP_011541708.1:p.Val742Ile
XM_011543407.1:c.2200G>A	XP_011541709.1:p.Val734Ile
XM_011543408.1:c.2479G>A	XP_011541710.1:p.Val827Ile
XM_017009484.1:c.2068G>A	XP_016864973.1:p.Val690Ile
XM_017009485.1:c.1990G>A	XP_016864974.1:p.Val664Ile
XR_001742068.2:n.2510G>A
NM_005921.2:c.2479G>A MANE Select	NP_005912.1:p.Val827Ile