Canonical Allele Identifier: CA3272994

Gene: MAP3K1

Linked Data

• dbSNP Id: rs781127623
• ExAC: 5:56177408 T / A
• gnomAD v2: 5-56177408-T-A
• gnomAD v4: 5-56881581-T-A
• MyVariant Identifiers: chr5:g.56177408T>A (hg19) ; chr5:g.56881581T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56881581T>A , CM000667.2:g.56881581T>A	GRCh38
NC_000005.9:g.56177408T>A , CM000667.1:g.56177408T>A	GRCh37
NC_000005.8:g.56213165T>A	NCBI36
NG_031884.1:g.71509T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.2381T>A MANE Select	ENSP00000382423.3:p.Leu794Gln
ENST00000399503.3:c.2381T>A	ENSP00000382423.3:p.Leu794Gln
NM_005921.1:c.2381T>A	NP_005912.1:p.Leu794Gln
XM_005248519.3:c.2003T>A	XP_005248576.2:p.Leu668Gln
XM_011543406.1:c.2126T>A	XP_011541708.1:p.Leu709Gln
XM_011543407.1:c.2102T>A	XP_011541709.1:p.Leu701Gln
XM_011543408.1:c.2381T>A	XP_011541710.1:p.Leu794Gln
XM_017009484.1:c.1970T>A	XP_016864973.1:p.Leu657Gln
XM_017009485.1:c.1892T>A	XP_016864974.1:p.Leu631Gln
XR_001742068.2:n.2412T>A
NM_005921.2:c.2381T>A MANE Select	NP_005912.1:p.Leu794Gln