Canonical Allele Identifier: CA359787870

Gene: MAP3K1

Linked Data

• dbSNP Id: rs1321718550
• gnomAD v2: 5-56178224-C-T
• gnomAD v4: 5-56882397-C-T
• MyVariant Identifiers: chr5:g.56178224C>T (hg19) ; chr5:g.56882397C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56882397C>T , CM000667.2:g.56882397C>T	GRCh38
NC_000005.9:g.56178224C>T , CM000667.1:g.56178224C>T	GRCh37
NC_000005.8:g.56213981C>T	NCBI36
NG_031884.1:g.72325C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.3197C>T MANE Select	ENSP00000382423.3:p.Thr1066Ile
ENST00000399503.3:c.3197C>T	ENSP00000382423.3:p.Thr1066Ile
NM_005921.1:c.3197C>T	NP_005912.1:p.Thr1066Ile
XM_005248519.3:c.2819C>T	XP_005248576.2:p.Thr940Ile
XM_011543406.1:c.2942C>T	XP_011541708.1:p.Thr981Ile
XM_011543407.1:c.2918C>T	XP_011541709.1:p.Thr973Ile
XM_011543408.1:c.3197C>T	XP_011541710.1:p.Thr1066Ile
XM_017009484.1:c.2786C>T	XP_016864973.1:p.Thr929Ile
XM_017009485.1:c.2708C>T	XP_016864974.1:p.Thr903Ile
XR_001742068.2:n.3228C>T
NM_005921.2:c.3197C>T MANE Select	NP_005912.1:p.Thr1066Ile