Canonical Allele Identifier: CA3273115

Gene: MAP3K1

Linked Data

• ClinVar Variation Id: 1170263
• ClinVar RCV Id: RCV001522463 ; RCV001685417
• dbSNP Id: rs3822625
• ExAC: 5:56178111 A / G
• gnomAD v2: 5-56178111-A-G
• gnomAD v3: 5-56882284-A-G
• gnomAD v4: 5-56882284-A-G
• MyVariant Identifiers: chr5:g.56178111A>G (hg19) ; chr5:g.56882284A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56882284A>G , CM000667.2:g.56882284A>G	GRCh38
NC_000005.9:g.56178111A>G , CM000667.1:g.56178111A>G	GRCh37
NC_000005.8:g.56213868A>G	NCBI36
NG_031884.1:g.72212A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000399503.4:c.3084A>G MANE Select	ENSP00000382423.3:p.Gln1028=
ENST00000399503.3:c.3084A>G	ENSP00000382423.3:p.Gln1028=
NM_005921.1:c.3084A>G	NP_005912.1:p.Gln1028=
XM_005248519.3:c.2706A>G	XP_005248576.2:p.Gln902=
XM_011543406.1:c.2829A>G	XP_011541708.1:p.Gln943=
XM_011543407.1:c.2805A>G	XP_011541709.1:p.Gln935=
XM_011543408.1:c.3084A>G	XP_011541710.1:p.Gln1028=
XM_017009484.1:c.2673A>G	XP_016864973.1:p.Gln891=
XM_017009485.1:c.2595A>G	XP_016864974.1:p.Gln865=
XR_001742068.2:n.3115A>G
NM_005921.2:c.3084A>G MANE Select	NP_005912.1:p.Gln1028=