Canonical Allele Identifier: CA359785889

Gene: MAP3K1

Linked Data

• MyVariant Identifiers: chr5:g.56177507T>A (hg19) ; chr5:g.56881680T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56881680T>A , CM000667.2:g.56881680T>A	GRCh38
NC_000005.9:g.56177507T>A , CM000667.1:g.56177507T>A	GRCh37
NC_000005.8:g.56213264T>A	NCBI36
NG_031884.1:g.71608T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.2480T>A MANE Select	ENSP00000382423.3:p.Val827Asp
ENST00000399503.3:c.2480T>A	ENSP00000382423.3:p.Val827Asp
NM_005921.1:c.2480T>A	NP_005912.1:p.Val827Asp
XM_005248519.3:c.2102T>A	XP_005248576.2:p.Val701Asp
XM_011543406.1:c.2225T>A	XP_011541708.1:p.Val742Asp
XM_011543407.1:c.2201T>A	XP_011541709.1:p.Val734Asp
XM_011543408.1:c.2480T>A	XP_011541710.1:p.Val827Asp
XM_017009484.1:c.2069T>A	XP_016864973.1:p.Val690Asp
XM_017009485.1:c.1991T>A	XP_016864974.1:p.Val664Asp
XR_001742068.2:n.2511T>A
NM_005921.2:c.2480T>A MANE Select	NP_005912.1:p.Val827Asp