Canonical Allele Identifier: CA359785960

Gene: MAP3K1

Linked Data

• MyVariant Identifiers: chr5:g.56177541A>T (hg19) ; chr5:g.56881714A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56881714A>T , CM000667.2:g.56881714A>T	GRCh38
NC_000005.9:g.56177541A>T , CM000667.1:g.56177541A>T	GRCh37
NC_000005.8:g.56213298A>T	NCBI36
NG_031884.1:g.71642A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.2514A>T MANE Select	ENSP00000382423.3:p.Leu838Phe
ENST00000399503.3:c.2514A>T	ENSP00000382423.3:p.Leu838Phe
NM_005921.1:c.2514A>T	NP_005912.1:p.Leu838Phe
XM_005248519.3:c.2136A>T	XP_005248576.2:p.Leu712Phe
XM_011543406.1:c.2259A>T	XP_011541708.1:p.Leu753Phe
XM_011543407.1:c.2235A>T	XP_011541709.1:p.Leu745Phe
XM_011543408.1:c.2514A>T	XP_011541710.1:p.Leu838Phe
XM_017009484.1:c.2103A>T	XP_016864973.1:p.Leu701Phe
XM_017009485.1:c.2025A>T	XP_016864974.1:p.Leu675Phe
XR_001742068.2:n.2545A>T
NM_005921.2:c.2514A>T MANE Select	NP_005912.1:p.Leu838Phe