Canonical Allele Identifier: CA359802419

Gene: MAP3K1

Linked Data

• MyVariant Identifiers: chr5:g.56155591T>A (hg19) ; chr5:g.56859764T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56859764T>A , CM000667.2:g.56859764T>A	GRCh38
NC_000005.9:g.56155591T>A , CM000667.1:g.56155591T>A	GRCh37
NC_000005.8:g.56191348T>A	NCBI36
NG_031884.1:g.49692T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000399503.4:c.683T>A MANE Select	ENSP00000382423.3:p.Leu228Ter
ENST00000399503.3:c.683T>A	ENSP00000382423.3:p.Leu228Ter
NM_005921.1:c.683T>A	NP_005912.1:p.Leu228Ter
XM_005248519.3:c.305T>A	XP_005248576.2:p.Leu102Ter
XM_011543406.1:c.428T>A	XP_011541708.1:p.Leu143Ter
XM_011543407.1:c.683T>A	XP_011541709.1:p.Leu228Ter
XM_011543408.1:c.683T>A	XP_011541710.1:p.Leu228Ter
XM_017009484.1:c.272T>A	XP_016864973.1:p.Leu91Ter
XM_017009485.1:c.194T>A	XP_016864974.1:p.Leu65Ter
XR_001742068.2:n.714T>A
NM_005921.2:c.683T>A MANE Select	NP_005912.1:p.Leu228Ter