Canonical Allele Identifier: CA444399517

Gene: MAP3K1

Linked Data

• gnomAD v4: 5-56882386-A-T
• MyVariant Identifiers: chr5:g.56178213A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56882386A>T , CM000667.2:g.56882386A>T	GRCh38
NC_000005.9:g.56178213A>T , CM000667.1:g.56178213A>T	GRCh37
NC_000005.8:g.56213970A>T	NCBI36
NG_031884.1:g.72314A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.3186A>T MANE Select	ENSP00000382423.3:p.Pro1062=
ENST00000399503.3:c.3186A>T	ENSP00000382423.3:p.Pro1062=
NM_005921.1:c.3186A>T	NP_005912.1:p.Pro1062=
XM_005248519.3:c.2808A>T	XP_005248576.2:p.Pro936=
XM_011543406.1:c.2931A>T	XP_011541708.1:p.Pro977=
XM_011543407.1:c.2907A>T	XP_011541709.1:p.Pro969=
XM_011543408.1:c.3186A>T	XP_011541710.1:p.Pro1062=
XM_017009484.1:c.2775A>T	XP_016864973.1:p.Pro925=
XM_017009485.1:c.2697A>T	XP_016864974.1:p.Pro899=
XR_001742068.2:n.3217A>T
NM_005921.2:c.3186A>T MANE Select	NP_005912.1:p.Pro1062=