Canonical Allele Identifier: CA359787759

Gene: MAP3K1

Linked Data

• gnomAD v4: 5-56882346-C-T
• MyVariant Identifiers: chr5:g.56178173C>T (hg19) ; chr5:g.56882346C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56882346C>T , CM000667.2:g.56882346C>T	GRCh38
NC_000005.9:g.56178173C>T , CM000667.1:g.56178173C>T	GRCh37
NC_000005.8:g.56213930C>T	NCBI36
NG_031884.1:g.72274C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.3146C>T MANE Select	ENSP00000382423.3:p.Ser1049Leu
ENST00000399503.3:c.3146C>T	ENSP00000382423.3:p.Ser1049Leu
NM_005921.1:c.3146C>T	NP_005912.1:p.Ser1049Leu
XM_005248519.3:c.2768C>T	XP_005248576.2:p.Ser923Leu
XM_011543406.1:c.2891C>T	XP_011541708.1:p.Ser964Leu
XM_011543407.1:c.2867C>T	XP_011541709.1:p.Ser956Leu
XM_011543408.1:c.3146C>T	XP_011541710.1:p.Ser1049Leu
XM_017009484.1:c.2735C>T	XP_016864973.1:p.Ser912Leu
XM_017009485.1:c.2657C>T	XP_016864974.1:p.Ser886Leu
XR_001742068.2:n.3177C>T
NM_005921.2:c.3146C>T MANE Select	NP_005912.1:p.Ser1049Leu