Canonical Allele Identifier: CA359787506

Gene: MAP3K1

Linked Data

• gnomAD v4: 5-56882231-C-A
• MyVariant Identifiers: chr5:g.56178058C>A (hg19) ; chr5:g.56882231C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56882231C>A , CM000667.2:g.56882231C>A	GRCh38
NC_000005.9:g.56178058C>A , CM000667.1:g.56178058C>A	GRCh37
NC_000005.8:g.56213815C>A	NCBI36
NG_031884.1:g.72159C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.3031C>A MANE Select	ENSP00000382423.3:p.Pro1011Thr
ENST00000399503.3:c.3031C>A	ENSP00000382423.3:p.Pro1011Thr
NM_005921.1:c.3031C>A	NP_005912.1:p.Pro1011Thr
XM_005248519.3:c.2653C>A	XP_005248576.2:p.Pro885Thr
XM_011543406.1:c.2776C>A	XP_011541708.1:p.Pro926Thr
XM_011543407.1:c.2752C>A	XP_011541709.1:p.Pro918Thr
XM_011543408.1:c.3031C>A	XP_011541710.1:p.Pro1011Thr
XM_017009484.1:c.2620C>A	XP_016864973.1:p.Pro874Thr
XM_017009485.1:c.2542C>A	XP_016864974.1:p.Pro848Thr
XR_001742068.2:n.3062C>A
NM_005921.2:c.3031C>A MANE Select	NP_005912.1:p.Pro1011Thr