Canonical Allele Identifier: CA359787893

Gene: MAP3K1

Linked Data

• gnomAD v4: 5-56882409-C-T
• MyVariant Identifiers: chr5:g.56178236C>T (hg19) ; chr5:g.56882409C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56882409C>T , CM000667.2:g.56882409C>T	GRCh38
NC_000005.9:g.56178236C>T , CM000667.1:g.56178236C>T	GRCh37
NC_000005.8:g.56213993C>T	NCBI36
NG_031884.1:g.72337C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.3209C>T MANE Select	ENSP00000382423.3:p.Thr1070Ile
ENST00000399503.3:c.3209C>T	ENSP00000382423.3:p.Thr1070Ile
NM_005921.1:c.3209C>T	NP_005912.1:p.Thr1070Ile
XM_005248519.3:c.2831C>T	XP_005248576.2:p.Thr944Ile
XM_011543406.1:c.2954C>T	XP_011541708.1:p.Thr985Ile
XM_011543407.1:c.2930C>T	XP_011541709.1:p.Thr977Ile
XM_011543408.1:c.3209C>T	XP_011541710.1:p.Thr1070Ile
XM_017009484.1:c.2798C>T	XP_016864973.1:p.Thr933Ile
XM_017009485.1:c.2720C>T	XP_016864974.1:p.Thr907Ile
XR_001742068.2:n.3240C>T
NM_005921.2:c.3209C>T MANE Select	NP_005912.1:p.Thr1070Ile