Canonical Allele Identifier: CA359802412

Gene: MAP3K1

Linked Data

• MyVariant Identifiers: chr5:g.56155588A>T (hg19) ; chr5:g.56859761A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56859761A>T , CM000667.2:g.56859761A>T	GRCh38
NC_000005.9:g.56155588A>T , CM000667.1:g.56155588A>T	GRCh37
NC_000005.8:g.56191345A>T	NCBI36
NG_031884.1:g.49689A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.680A>T MANE Select	ENSP00000382423.3:p.His227Leu
ENST00000399503.3:c.680A>T	ENSP00000382423.3:p.His227Leu
NM_005921.1:c.680A>T	NP_005912.1:p.His227Leu
XM_005248519.3:c.302A>T	XP_005248576.2:p.His101Leu
XM_011543406.1:c.425A>T	XP_011541708.1:p.His142Leu
XM_011543407.1:c.680A>T	XP_011541709.1:p.His227Leu
XM_011543408.1:c.680A>T	XP_011541710.1:p.His227Leu
XM_017009484.1:c.269A>T	XP_016864973.1:p.His90Leu
XM_017009485.1:c.191A>T	XP_016864974.1:p.His64Leu
XR_001742068.2:n.711A>T
NM_005921.2:c.680A>T MANE Select	NP_005912.1:p.His227Leu