Canonical Allele Identifier: CA359786128

Gene: MAP3K1

Linked Data

• gnomAD v4: 5-56881793-A-C
• MyVariant Identifiers: chr5:g.56177620A>C (hg19) ; chr5:g.56881793A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56881793A>C , CM000667.2:g.56881793A>C	GRCh38
NC_000005.9:g.56177620A>C , CM000667.1:g.56177620A>C	GRCh37
NC_000005.8:g.56213377A>C	NCBI36
NG_031884.1:g.71721A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.2593A>C MANE Select	ENSP00000382423.3:p.Ile865Leu
ENST00000399503.3:c.2593A>C	ENSP00000382423.3:p.Ile865Leu
NM_005921.1:c.2593A>C	NP_005912.1:p.Ile865Leu
XM_005248519.3:c.2215A>C	XP_005248576.2:p.Ile739Leu
XM_011543406.1:c.2338A>C	XP_011541708.1:p.Ile780Leu
XM_011543407.1:c.2314A>C	XP_011541709.1:p.Ile772Leu
XM_011543408.1:c.2593A>C	XP_011541710.1:p.Ile865Leu
XM_017009484.1:c.2182A>C	XP_016864973.1:p.Ile728Leu
XM_017009485.1:c.2104A>C	XP_016864974.1:p.Ile702Leu
XR_001742068.2:n.2624A>C
NM_005921.2:c.2593A>C MANE Select	NP_005912.1:p.Ile865Leu