Canonical Allele Identifier: CA359802393

Gene: MAP3K1

Linked Data

• gnomAD v4: 5-56859754-A-T
• MyVariant Identifiers: chr5:g.56155581A>T (hg19) ; chr5:g.56859754A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56859754A>T , CM000667.2:g.56859754A>T	GRCh38
NC_000005.9:g.56155581A>T , CM000667.1:g.56155581A>T	GRCh37
NC_000005.8:g.56191338A>T	NCBI36
NG_031884.1:g.49682A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000399503.4:c.673A>T MANE Select	ENSP00000382423.3:p.Met225Leu
ENST00000399503.3:c.673A>T	ENSP00000382423.3:p.Met225Leu
NM_005921.1:c.673A>T	NP_005912.1:p.Met225Leu
XM_005248519.3:c.295A>T	XP_005248576.2:p.Met99Leu
XM_011543406.1:c.418A>T	XP_011541708.1:p.Met140Leu
XM_011543407.1:c.673A>T	XP_011541709.1:p.Met225Leu
XM_011543408.1:c.673A>T	XP_011541710.1:p.Met225Leu
XM_017009484.1:c.262A>T	XP_016864973.1:p.Met88Leu
XM_017009485.1:c.184A>T	XP_016864974.1:p.Met62Leu
XR_001742068.2:n.704A>T
NM_005921.2:c.673A>T MANE Select	NP_005912.1:p.Met225Leu