Canonical Allele Identifier: CA119080212

Gene: MAP3K1

Linked Data

• ClinVar Variation Id: 1655430
• ClinVar RCV Id: RCV002158923
• dbSNP Id: rs918712593
• gnomAD v3: 5-56882398-C-G
• gnomAD v4: 5-56882398-C-G
• MyVariant Identifiers: chr5:g.56178225C>G (hg19) ; chr5:g.56882398C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56882398C>G , CM000667.2:g.56882398C>G	GRCh38
NC_000005.9:g.56178225C>G , CM000667.1:g.56178225C>G	GRCh37
NC_000005.8:g.56213982C>G	NCBI36
NG_031884.1:g.72326C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.3198C>G MANE Select	ENSP00000382423.3:p.Thr1066=
ENST00000399503.3:c.3198C>G	ENSP00000382423.3:p.Thr1066=
NM_005921.1:c.3198C>G	NP_005912.1:p.Thr1066=
XM_005248519.3:c.2820C>G	XP_005248576.2:p.Thr940=
XM_011543406.1:c.2943C>G	XP_011541708.1:p.Thr981=
XM_011543407.1:c.2919C>G	XP_011541709.1:p.Thr973=
XM_011543408.1:c.3198C>G	XP_011541710.1:p.Thr1066=
XM_017009484.1:c.2787C>G	XP_016864973.1:p.Thr929=
XM_017009485.1:c.2709C>G	XP_016864974.1:p.Thr903=
XR_001742068.2:n.3229C>G
NM_005921.2:c.3198C>G MANE Select	NP_005912.1:p.Thr1066=