Canonical Allele Identifier: CA3272607

Gene: MAP3K1

Linked Data

• dbSNP Id: rs201539021
• ExAC: 5:56155686 C / T
• gnomAD v2: 5-56155686-C-T
• gnomAD v3: 5-56859859-C-T
• gnomAD v4: 5-56859859-C-T
• MyVariant Identifiers: chr5:g.56155686C>T (hg19) ; chr5:g.56859859C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56859859C>T , CM000667.2:g.56859859C>T	GRCh38
NC_000005.9:g.56155686C>T , CM000667.1:g.56155686C>T	GRCh37
NC_000005.8:g.56191443C>T	NCBI36
NG_031884.1:g.49787C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000399503.4:c.778C>T MANE Select	ENSP00000382423.3:p.Arg260Cys
ENST00000399503.3:c.778C>T	ENSP00000382423.3:p.Arg260Cys
NM_005921.1:c.778C>T	NP_005912.1:p.Arg260Cys
XM_005248519.3:c.400C>T	XP_005248576.2:p.Arg134Cys
XM_011543406.1:c.523C>T	XP_011541708.1:p.Arg175Cys
XM_011543407.1:c.778C>T	XP_011541709.1:p.Arg260Cys
XM_011543408.1:c.778C>T	XP_011541710.1:p.Arg260Cys
XM_017009484.1:c.367C>T	XP_016864973.1:p.Arg123Cys
XM_017009485.1:c.289C>T	XP_016864974.1:p.Arg97Cys
XR_001742068.2:n.809C>T
NM_005921.2:c.778C>T MANE Select	NP_005912.1:p.Arg260Cys