Canonical Allele Identifier: CA359787602

Gene: MAP3K1

Linked Data

• dbSNP Id: rs1333785060
• gnomAD v2: 5-56178104-C-T
• gnomAD v3: 5-56882277-C-T
• gnomAD v4: 5-56882277-C-T
• MyVariant Identifiers: chr5:g.56178104C>T (hg19) ; chr5:g.56882277C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56882277C>T , CM000667.2:g.56882277C>T	GRCh38
NC_000005.9:g.56178104C>T , CM000667.1:g.56178104C>T	GRCh37
NC_000005.8:g.56213861C>T	NCBI36
NG_031884.1:g.72205C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.3077C>T MANE Select	ENSP00000382423.3:p.Ser1026Phe
ENST00000399503.3:c.3077C>T	ENSP00000382423.3:p.Ser1026Phe
NM_005921.1:c.3077C>T	NP_005912.1:p.Ser1026Phe
XM_005248519.3:c.2699C>T	XP_005248576.2:p.Ser900Phe
XM_011543406.1:c.2822C>T	XP_011541708.1:p.Ser941Phe
XM_011543407.1:c.2798C>T	XP_011541709.1:p.Ser933Phe
XM_011543408.1:c.3077C>T	XP_011541710.1:p.Ser1026Phe
XM_017009484.1:c.2666C>T	XP_016864973.1:p.Ser889Phe
XM_017009485.1:c.2588C>T	XP_016864974.1:p.Ser863Phe
XR_001742068.2:n.3108C>T
NM_005921.2:c.3077C>T MANE Select	NP_005912.1:p.Ser1026Phe