Canonical Allele Identifier: CA359802551

Gene: MAP3K1

Linked Data

• MyVariant Identifiers: chr5:g.56155659C>A (hg19) ; chr5:g.56859832C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56859832C>A , CM000667.2:g.56859832C>A	GRCh38
NC_000005.9:g.56155659C>A , CM000667.1:g.56155659C>A	GRCh37
NC_000005.8:g.56191416C>A	NCBI36
NG_031884.1:g.49760C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.751C>A MANE Select	ENSP00000382423.3:p.Pro251Thr
ENST00000399503.3:c.751C>A	ENSP00000382423.3:p.Pro251Thr
NM_005921.1:c.751C>A	NP_005912.1:p.Pro251Thr
XM_005248519.3:c.373C>A	XP_005248576.2:p.Pro125Thr
XM_011543406.1:c.496C>A	XP_011541708.1:p.Pro166Thr
XM_011543407.1:c.751C>A	XP_011541709.1:p.Pro251Thr
XM_011543408.1:c.751C>A	XP_011541710.1:p.Pro251Thr
XM_017009484.1:c.340C>A	XP_016864973.1:p.Pro114Thr
XM_017009485.1:c.262C>A	XP_016864974.1:p.Pro88Thr
XR_001742068.2:n.782C>A
NM_005921.2:c.751C>A MANE Select	NP_005912.1:p.Pro251Thr