Canonical Allele Identifier: CA359781057

Gene: MAP3K1

Linked Data

• MyVariant Identifiers: chr5:g.56171031G>T (hg19) ; chr5:g.56875204G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56875204G>T , CM000667.2:g.56875204G>T	GRCh38
NC_000005.9:g.56171031G>T , CM000667.1:g.56171031G>T	GRCh37
NC_000005.8:g.56206788G>T	NCBI36
NG_031884.1:g.65132G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000399503.4:c.1859G>T MANE Select	ENSP00000382423.3:p.Ser620Ile
ENST00000399503.3:c.1859G>T	ENSP00000382423.3:p.Ser620Ile
NM_005921.1:c.1859G>T	NP_005912.1:p.Ser620Ile
XM_005248519.3:c.1481G>T	XP_005248576.2:p.Ser494Ile
XM_011543406.1:c.1604G>T	XP_011541708.1:p.Ser535Ile
XM_011543407.1:c.1686+2199G>T	XP_011541709.1:n.1686+2199G>T
XM_011543408.1:c.1859G>T	XP_011541710.1:p.Ser620Ile
XM_017009484.1:c.1448G>T	XP_016864973.1:p.Ser483Ile
XM_017009485.1:c.1370G>T	XP_016864974.1:p.Ser457Ile
XR_001742068.2:n.1890G>T
NM_005921.2:c.1859G>T MANE Select	NP_005912.1:p.Ser620Ile