Canonical Allele Identifier: CA3273109

Gene: MAP3K1

Linked Data

• dbSNP Id: rs746611474
• ExAC: 5:56178094 C / T
• gnomAD v2: 5-56178094-C-T
• gnomAD v3: 5-56882267-C-T
• gnomAD v4: 5-56882267-C-T
• MyVariant Identifiers: chr5:g.56178094C>T (hg19) ; chr5:g.56882267C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56882267C>T , CM000667.2:g.56882267C>T	GRCh38
NC_000005.9:g.56178094C>T , CM000667.1:g.56178094C>T	GRCh37
NC_000005.8:g.56213851C>T	NCBI36
NG_031884.1:g.72195C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.3067C>T MANE Select	ENSP00000382423.3:p.Arg1023Cys
ENST00000399503.3:c.3067C>T	ENSP00000382423.3:p.Arg1023Cys
NM_005921.1:c.3067C>T	NP_005912.1:p.Arg1023Cys
XM_005248519.3:c.2689C>T	XP_005248576.2:p.Arg897Cys
XM_011543406.1:c.2812C>T	XP_011541708.1:p.Arg938Cys
XM_011543407.1:c.2788C>T	XP_011541709.1:p.Arg930Cys
XM_011543408.1:c.3067C>T	XP_011541710.1:p.Arg1023Cys
XM_017009484.1:c.2656C>T	XP_016864973.1:p.Arg886Cys
XM_017009485.1:c.2578C>T	XP_016864974.1:p.Arg860Cys
XR_001742068.2:n.3098C>T
NM_005921.2:c.3067C>T MANE Select	NP_005912.1:p.Arg1023Cys