Canonical Allele Identifier: CA359787797

Gene: MAP3K1

Linked Data

• gnomAD v4: 5-56882364-G-T
• MyVariant Identifiers: chr5:g.56178191G>T (hg19) ; chr5:g.56882364G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56882364G>T , CM000667.2:g.56882364G>T	GRCh38
NC_000005.9:g.56178191G>T , CM000667.1:g.56178191G>T	GRCh37
NC_000005.8:g.56213948G>T	NCBI36
NG_031884.1:g.72292G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.3164G>T MANE Select	ENSP00000382423.3:p.Ser1055Ile
ENST00000399503.3:c.3164G>T	ENSP00000382423.3:p.Ser1055Ile
NM_005921.1:c.3164G>T	NP_005912.1:p.Ser1055Ile
XM_005248519.3:c.2786G>T	XP_005248576.2:p.Ser929Ile
XM_011543406.1:c.2909G>T	XP_011541708.1:p.Ser970Ile
XM_011543407.1:c.2885G>T	XP_011541709.1:p.Ser962Ile
XM_011543408.1:c.3164G>T	XP_011541710.1:p.Ser1055Ile
XM_017009484.1:c.2753G>T	XP_016864973.1:p.Ser918Ile
XM_017009485.1:c.2675G>T	XP_016864974.1:p.Ser892Ile
XR_001742068.2:n.3195G>T
NM_005921.2:c.3164G>T MANE Select	NP_005912.1:p.Ser1055Ile