Canonical Allele Identifier: CA359802337

Gene: MAP3K1

Linked Data

• MyVariant Identifiers: chr5:g.56155554A>T (hg19) ; chr5:g.56859727A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56859727A>T , CM000667.2:g.56859727A>T	GRCh38
NC_000005.9:g.56155554A>T , CM000667.1:g.56155554A>T	GRCh37
NC_000005.8:g.56191311A>T	NCBI36
NG_031884.1:g.49655A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.646A>T MANE Select	ENSP00000382423.3:p.Ile216Phe
ENST00000399503.3:c.646A>T	ENSP00000382423.3:p.Ile216Phe
NM_005921.1:c.646A>T	NP_005912.1:p.Ile216Phe
XM_005248519.3:c.268A>T	XP_005248576.2:p.Ile90Phe
XM_011543406.1:c.391A>T	XP_011541708.1:p.Ile131Phe
XM_011543407.1:c.646A>T	XP_011541709.1:p.Ile216Phe
XM_011543408.1:c.646A>T	XP_011541710.1:p.Ile216Phe
XM_017009484.1:c.235A>T	XP_016864973.1:p.Ile79Phe
XM_017009485.1:c.157A>T	XP_016864974.1:p.Ile53Phe
XR_001742068.2:n.677A>T
NM_005921.2:c.646A>T MANE Select	NP_005912.1:p.Ile216Phe