Canonical Allele Identifier: CA359802720

Gene: MAP3K1

Linked Data

• MyVariant Identifiers: chr5:g.56155741C>T (hg19) ; chr5:g.56859914C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56859914C>T , CM000667.2:g.56859914C>T	GRCh38
NC_000005.9:g.56155741C>T , CM000667.1:g.56155741C>T	GRCh37
NC_000005.8:g.56191498C>T	NCBI36
NG_031884.1:g.49842C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.833C>T MANE Select	ENSP00000382423.3:p.Pro278Leu
ENST00000399503.3:c.833C>T	ENSP00000382423.3:p.Pro278Leu
NM_005921.1:c.833C>T	NP_005912.1:p.Pro278Leu
XM_005248519.3:c.455C>T	XP_005248576.2:p.Pro152Leu
XM_011543406.1:c.578C>T	XP_011541708.1:p.Pro193Leu
XM_011543407.1:c.833C>T	XP_011541709.1:p.Pro278Leu
XM_011543408.1:c.833C>T	XP_011541710.1:p.Pro278Leu
XM_017009484.1:c.422C>T	XP_016864973.1:p.Pro141Leu
XM_017009485.1:c.344C>T	XP_016864974.1:p.Pro115Leu
XR_001742068.2:n.864C>T
NM_005921.2:c.833C>T MANE Select	NP_005912.1:p.Pro278Leu