Canonical Allele Identifier: CA3273127

Gene: MAP3K1

Linked Data

• dbSNP Id: rs751282045
• ExAC: 5:56178188 C / T
• gnomAD v2: 5-56178188-C-T
• gnomAD v4: 5-56882361-C-T
• MyVariant Identifiers: chr5:g.56178188C>T (hg19) ; chr5:g.56882361C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56882361C>T , CM000667.2:g.56882361C>T	GRCh38
NC_000005.9:g.56178188C>T , CM000667.1:g.56178188C>T	GRCh37
NC_000005.8:g.56213945C>T	NCBI36
NG_031884.1:g.72289C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.3161C>T MANE Select	ENSP00000382423.3:p.Ser1054Phe
ENST00000399503.3:c.3161C>T	ENSP00000382423.3:p.Ser1054Phe
NM_005921.1:c.3161C>T	NP_005912.1:p.Ser1054Phe
XM_005248519.3:c.2783C>T	XP_005248576.2:p.Ser928Phe
XM_011543406.1:c.2906C>T	XP_011541708.1:p.Ser969Phe
XM_011543407.1:c.2882C>T	XP_011541709.1:p.Ser961Phe
XM_011543408.1:c.3161C>T	XP_011541710.1:p.Ser1054Phe
XM_017009484.1:c.2750C>T	XP_016864973.1:p.Ser917Phe
XM_017009485.1:c.2672C>T	XP_016864974.1:p.Ser891Phe
XR_001742068.2:n.3192C>T
NM_005921.2:c.3161C>T MANE Select	NP_005912.1:p.Ser1054Phe