Canonical Allele Identifier: CA359787496

Gene: MAP3K1

Linked Data

• gnomAD v4: 5-56882226-T-C
• MyVariant Identifiers: chr5:g.56178053T>C (hg19) ; chr5:g.56882226T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56882226T>C , CM000667.2:g.56882226T>C	GRCh38
NC_000005.9:g.56178053T>C , CM000667.1:g.56178053T>C	GRCh37
NC_000005.8:g.56213810T>C	NCBI36
NG_031884.1:g.72154T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.3026T>C MANE Select	ENSP00000382423.3:p.Phe1009Ser
ENST00000399503.3:c.3026T>C	ENSP00000382423.3:p.Phe1009Ser
NM_005921.1:c.3026T>C	NP_005912.1:p.Phe1009Ser
XM_005248519.3:c.2648T>C	XP_005248576.2:p.Phe883Ser
XM_011543406.1:c.2771T>C	XP_011541708.1:p.Phe924Ser
XM_011543407.1:c.2747T>C	XP_011541709.1:p.Phe916Ser
XM_011543408.1:c.3026T>C	XP_011541710.1:p.Phe1009Ser
XM_017009484.1:c.2615T>C	XP_016864973.1:p.Phe872Ser
XM_017009485.1:c.2537T>C	XP_016864974.1:p.Phe846Ser
XR_001742068.2:n.3057T>C
NM_005921.2:c.3026T>C MANE Select	NP_005912.1:p.Phe1009Ser