Canonical Allele Identifier: CA359787764

Gene: MAP3K1

Linked Data

• MyVariant Identifiers: chr5:g.56178176G>T (hg19) ; chr5:g.56882349G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56882349G>T , CM000667.2:g.56882349G>T	GRCh38
NC_000005.9:g.56178176G>T , CM000667.1:g.56178176G>T	GRCh37
NC_000005.8:g.56213933G>T	NCBI36
NG_031884.1:g.72277G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.3149G>T MANE Select	ENSP00000382423.3:p.Arg1050Ile
ENST00000399503.3:c.3149G>T	ENSP00000382423.3:p.Arg1050Ile
NM_005921.1:c.3149G>T	NP_005912.1:p.Arg1050Ile
XM_005248519.3:c.2771G>T	XP_005248576.2:p.Arg924Ile
XM_011543406.1:c.2894G>T	XP_011541708.1:p.Arg965Ile
XM_011543407.1:c.2870G>T	XP_011541709.1:p.Arg957Ile
XM_011543408.1:c.3149G>T	XP_011541710.1:p.Arg1050Ile
XM_017009484.1:c.2738G>T	XP_016864973.1:p.Arg913Ile
XM_017009485.1:c.2660G>T	XP_016864974.1:p.Arg887Ile
XR_001742068.2:n.3180G>T
NM_005921.2:c.3149G>T MANE Select	NP_005912.1:p.Arg1050Ile