Canonical Allele Identifier: CA444399452

Gene: MAP3K1

Linked Data

• dbSNP Id: rs1216230558
• gnomAD v3: 5-56882353-C-G
• gnomAD v4: 5-56882353-C-G
• MyVariant Identifiers: chr5:g.56178180C>G (hg19) ; chr5:g.56882353C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56882353C>G , CM000667.2:g.56882353C>G	GRCh38
NC_000005.9:g.56178180C>G , CM000667.1:g.56178180C>G	GRCh37
NC_000005.8:g.56213937C>G	NCBI36
NG_031884.1:g.72281C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.3153C>G MANE Select	ENSP00000382423.3:p.Pro1051=
ENST00000399503.3:c.3153C>G	ENSP00000382423.3:p.Pro1051=
NM_005921.1:c.3153C>G	NP_005912.1:p.Pro1051=
XM_005248519.3:c.2775C>G	XP_005248576.2:p.Pro925=
XM_011543406.1:c.2898C>G	XP_011541708.1:p.Pro966=
XM_011543407.1:c.2874C>G	XP_011541709.1:p.Pro958=
XM_011543408.1:c.3153C>G	XP_011541710.1:p.Pro1051=
XM_017009484.1:c.2742C>G	XP_016864973.1:p.Pro914=
XM_017009485.1:c.2664C>G	XP_016864974.1:p.Pro888=
XR_001742068.2:n.3184C>G
NM_005921.2:c.3153C>G MANE Select	NP_005912.1:p.Pro1051=