Canonical Allele Identifier: CA3273103

Gene: MAP3K1

Linked Data

• dbSNP Id: rs751033365
• ExAC: 5:56178063 C / G
• gnomAD v2: 5-56178063-C-G
• gnomAD v3: 5-56882236-C-G
• gnomAD v4: 5-56882236-C-G
• MyVariant Identifiers: chr5:g.56178063C>G (hg19) ; chr5:g.56882236C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56882236C>G , CM000667.2:g.56882236C>G	GRCh38
NC_000005.9:g.56178063C>G , CM000667.1:g.56178063C>G	GRCh37
NC_000005.8:g.56213820C>G	NCBI36
NG_031884.1:g.72164C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.3036C>G MANE Select	ENSP00000382423.3:p.Cys1012Trp
ENST00000399503.3:c.3036C>G	ENSP00000382423.3:p.Cys1012Trp
NM_005921.1:c.3036C>G	NP_005912.1:p.Cys1012Trp
XM_005248519.3:c.2658C>G	XP_005248576.2:p.Cys886Trp
XM_011543406.1:c.2781C>G	XP_011541708.1:p.Cys927Trp
XM_011543407.1:c.2757C>G	XP_011541709.1:p.Cys919Trp
XM_011543408.1:c.3036C>G	XP_011541710.1:p.Cys1012Trp
XM_017009484.1:c.2625C>G	XP_016864973.1:p.Cys875Trp
XM_017009485.1:c.2547C>G	XP_016864974.1:p.Cys849Trp
XR_001742068.2:n.3067C>G
NM_005921.2:c.3036C>G MANE Select	NP_005912.1:p.Cys1012Trp