Canonical Allele Identifier: CA359785651

Gene: MAP3K1

Linked Data

• gnomAD v4: 5-56881571-T-C
• MyVariant Identifiers: chr5:g.56177398T>C (hg19) ; chr5:g.56881571T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56881571T>C , CM000667.2:g.56881571T>C	GRCh38
NC_000005.9:g.56177398T>C , CM000667.1:g.56177398T>C	GRCh37
NC_000005.8:g.56213155T>C	NCBI36
NG_031884.1:g.71499T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.2371T>C MANE Select	ENSP00000382423.3:p.Tyr791His
ENST00000399503.3:c.2371T>C	ENSP00000382423.3:p.Tyr791His
NM_005921.1:c.2371T>C	NP_005912.1:p.Tyr791His
XM_005248519.3:c.1993T>C	XP_005248576.2:p.Tyr665His
XM_011543406.1:c.2116T>C	XP_011541708.1:p.Tyr706His
XM_011543407.1:c.2092T>C	XP_011541709.1:p.Tyr698His
XM_011543408.1:c.2371T>C	XP_011541710.1:p.Tyr791His
XM_017009484.1:c.1960T>C	XP_016864973.1:p.Tyr654His
XM_017009485.1:c.1882T>C	XP_016864974.1:p.Tyr628His
XR_001742068.2:n.2402T>C
NM_005921.2:c.2371T>C MANE Select	NP_005912.1:p.Tyr791His