Canonical Allele Identifier: CA359787751

Gene: MAP3K1

Linked Data

• MyVariant Identifiers: chr5:g.56178170A>T (hg19) ; chr5:g.56882343A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56882343A>T , CM000667.2:g.56882343A>T	GRCh38
NC_000005.9:g.56178170A>T , CM000667.1:g.56178170A>T	GRCh37
NC_000005.8:g.56213927A>T	NCBI36
NG_031884.1:g.72271A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.3143A>T MANE Select	ENSP00000382423.3:p.Gln1048Leu
ENST00000399503.3:c.3143A>T	ENSP00000382423.3:p.Gln1048Leu
NM_005921.1:c.3143A>T	NP_005912.1:p.Gln1048Leu
XM_005248519.3:c.2765A>T	XP_005248576.2:p.Gln922Leu
XM_011543406.1:c.2888A>T	XP_011541708.1:p.Gln963Leu
XM_011543407.1:c.2864A>T	XP_011541709.1:p.Gln955Leu
XM_011543408.1:c.3143A>T	XP_011541710.1:p.Gln1048Leu
XM_017009484.1:c.2732A>T	XP_016864973.1:p.Gln911Leu
XM_017009485.1:c.2654A>T	XP_016864974.1:p.Gln885Leu
XR_001742068.2:n.3174A>T
NM_005921.2:c.3143A>T MANE Select	NP_005912.1:p.Gln1048Leu