Canonical Allele Identifier: CA359780662

Gene: MAP3K1

Linked Data

• dbSNP Id: rs2111920512
• gnomAD v4: 5-56875095-C-T
• MyVariant Identifiers: chr5:g.56170922C>T (hg19) ; chr5:g.56875095C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56875095C>T , CM000667.2:g.56875095C>T	GRCh38
NC_000005.9:g.56170922C>T , CM000667.1:g.56170922C>T	GRCh37
NC_000005.8:g.56206679C>T	NCBI36
NG_031884.1:g.65023C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.1750C>T MANE Select	ENSP00000382423.3:p.Leu584Phe
ENST00000399503.3:c.1750C>T	ENSP00000382423.3:p.Leu584Phe
NM_005921.1:c.1750C>T	NP_005912.1:p.Leu584Phe
XM_005248519.3:c.1372C>T	XP_005248576.2:p.Leu458Phe
XM_011543406.1:c.1495C>T	XP_011541708.1:p.Leu499Phe
XM_011543407.1:c.1686+2090C>T	XP_011541709.1:n.1686+2090C>T
XM_011543408.1:c.1750C>T	XP_011541710.1:p.Leu584Phe
XM_017009484.1:c.1339C>T	XP_016864973.1:p.Leu447Phe
XM_017009485.1:c.1261C>T	XP_016864974.1:p.Leu421Phe
XR_001742068.2:n.1781C>T
NM_005921.2:c.1750C>T MANE Select	NP_005912.1:p.Leu584Phe