Canonical Allele Identifier: CA359787833

Gene: MAP3K1

Linked Data

• gnomAD v4: 5-56882379-C-A
• MyVariant Identifiers: chr5:g.56178206C>A (hg19) ; chr5:g.56882379C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56882379C>A , CM000667.2:g.56882379C>A	GRCh38
NC_000005.9:g.56178206C>A , CM000667.1:g.56178206C>A	GRCh37
NC_000005.8:g.56213963C>A	NCBI36
NG_031884.1:g.72307C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.3179C>A MANE Select	ENSP00000382423.3:p.Pro1060Gln
ENST00000399503.3:c.3179C>A	ENSP00000382423.3:p.Pro1060Gln
NM_005921.1:c.3179C>A	NP_005912.1:p.Pro1060Gln
XM_005248519.3:c.2801C>A	XP_005248576.2:p.Pro934Gln
XM_011543406.1:c.2924C>A	XP_011541708.1:p.Pro975Gln
XM_011543407.1:c.2900C>A	XP_011541709.1:p.Pro967Gln
XM_011543408.1:c.3179C>A	XP_011541710.1:p.Pro1060Gln
XM_017009484.1:c.2768C>A	XP_016864973.1:p.Pro923Gln
XM_017009485.1:c.2690C>A	XP_016864974.1:p.Pro897Gln
XR_001742068.2:n.3210C>A
NM_005921.2:c.3179C>A MANE Select	NP_005912.1:p.Pro1060Gln