Canonical Allele Identifier: CA3272595

Gene: MAP3K1

Linked Data

• dbSNP Id: rs768025328
• ExAC: 5:56155627 C / T
• gnomAD v2: 5-56155627-C-T
• gnomAD v3: 5-56859800-C-T
• gnomAD v4: 5-56859800-C-T
• MyVariant Identifiers: chr5:g.56155627C>T (hg19) ; chr5:g.56859800C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56859800C>T , CM000667.2:g.56859800C>T	GRCh38
NC_000005.9:g.56155627C>T , CM000667.1:g.56155627C>T	GRCh37
NC_000005.8:g.56191384C>T	NCBI36
NG_031884.1:g.49728C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.719C>T MANE Select	ENSP00000382423.3:p.Ala240Val
ENST00000399503.3:c.719C>T	ENSP00000382423.3:p.Ala240Val
NM_005921.1:c.719C>T	NP_005912.1:p.Ala240Val
XM_005248519.3:c.341C>T	XP_005248576.2:p.Ala114Val
XM_011543406.1:c.464C>T	XP_011541708.1:p.Ala155Val
XM_011543407.1:c.719C>T	XP_011541709.1:p.Ala240Val
XM_011543408.1:c.719C>T	XP_011541710.1:p.Ala240Val
XM_017009484.1:c.308C>T	XP_016864973.1:p.Ala103Val
XM_017009485.1:c.230C>T	XP_016864974.1:p.Ala77Val
XR_001742068.2:n.750C>T
NM_005921.2:c.719C>T MANE Select	NP_005912.1:p.Ala240Val