Canonical Allele Identifier: CA3273018

Gene: MAP3K1

Linked Data

• ClinVar Variation Id: 1319859
• ClinVar RCV Id: RCV003238107
• dbSNP Id: rs368201444
• ExAC: 5:56177584 C / A
• gnomAD v2: 5-56177584-C-A
• gnomAD v4: 5-56881757-C-A
• MyVariant Identifiers: chr5:g.56177584C>A (hg19) ; chr5:g.56881757C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56881757C>A , CM000667.2:g.56881757C>A	GRCh38
NC_000005.9:g.56177584C>A , CM000667.1:g.56177584C>A	GRCh37
NC_000005.8:g.56213341C>A	NCBI36
NG_031884.1:g.71685C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.2557C>A MANE Select	ENSP00000382423.3:p.Arg853Ser
ENST00000399503.3:c.2557C>A	ENSP00000382423.3:p.Arg853Ser
NM_005921.1:c.2557C>A	NP_005912.1:p.Arg853Ser
XM_005248519.3:c.2179C>A	XP_005248576.2:p.Arg727Ser
XM_011543406.1:c.2302C>A	XP_011541708.1:p.Arg768Ser
XM_011543407.1:c.2278C>A	XP_011541709.1:p.Arg760Ser
XM_011543408.1:c.2557C>A	XP_011541710.1:p.Arg853Ser
XM_017009484.1:c.2146C>A	XP_016864973.1:p.Arg716Ser
XM_017009485.1:c.2068C>A	XP_016864974.1:p.Arg690Ser
XR_001742068.2:n.2588C>A
NM_005921.2:c.2557C>A MANE Select	NP_005912.1:p.Arg853Ser