Canonical Allele Identifier: CA444399091

Gene: MAP3K1

Linked Data

• gnomAD v4: 5-56881660-C-T
• MyVariant Identifiers: chr5:g.56177487C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56881660C>T , CM000667.2:g.56881660C>T	GRCh38
NC_000005.9:g.56177487C>T , CM000667.1:g.56177487C>T	GRCh37
NC_000005.8:g.56213244C>T	NCBI36
NG_031884.1:g.71588C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.2460C>T MANE Select	ENSP00000382423.3:p.Tyr820=
ENST00000399503.3:c.2460C>T	ENSP00000382423.3:p.Tyr820=
NM_005921.1:c.2460C>T	NP_005912.1:p.Tyr820=
XM_005248519.3:c.2082C>T	XP_005248576.2:p.Tyr694=
XM_011543406.1:c.2205C>T	XP_011541708.1:p.Tyr735=
XM_011543407.1:c.2181C>T	XP_011541709.1:p.Tyr727=
XM_011543408.1:c.2460C>T	XP_011541710.1:p.Tyr820=
XM_017009484.1:c.2049C>T	XP_016864973.1:p.Tyr683=
XM_017009485.1:c.1971C>T	XP_016864974.1:p.Tyr657=
XR_001742068.2:n.2491C>T
NM_005921.2:c.2460C>T MANE Select	NP_005912.1:p.Tyr820=