Canonical Allele Identifier: CA359787572

Gene: MAP3K1

Linked Data

• ClinVar Variation Id: 451621
• ClinVar RCV Id: RCV000520076
• dbSNP Id: rs901499471
• MyVariant Identifiers: chr5:g.56178089C>T (hg19) ; chr5:g.56882262C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56882262C>T , CM000667.2:g.56882262C>T	GRCh38
NC_000005.9:g.56178089C>T , CM000667.1:g.56178089C>T	GRCh37
NC_000005.8:g.56213846C>T	NCBI36
NG_031884.1:g.72190C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.3062C>T MANE Select	ENSP00000382423.3:p.Thr1021Ile
ENST00000399503.3:c.3062C>T	ENSP00000382423.3:p.Thr1021Ile
NM_005921.1:c.3062C>T	NP_005912.1:p.Thr1021Ile
XM_005248519.3:c.2684C>T	XP_005248576.2:p.Thr895Ile
XM_011543406.1:c.2807C>T	XP_011541708.1:p.Thr936Ile
XM_011543407.1:c.2783C>T	XP_011541709.1:p.Thr928Ile
XM_011543408.1:c.3062C>T	XP_011541710.1:p.Thr1021Ile
XM_017009484.1:c.2651C>T	XP_016864973.1:p.Thr884Ile
XM_017009485.1:c.2573C>T	XP_016864974.1:p.Thr858Ile
XR_001742068.2:n.3093C>T
NM_005921.2:c.3062C>T MANE Select	NP_005912.1:p.Thr1021Ile