Canonical Allele Identifier: CA119520100

Gene: MAP3K1

Linked Data

• dbSNP Id: rs200234617
• gnomAD v3: 5-56859826-C-T
• gnomAD v4: 5-56859826-C-T
• COSMIC: COSM3344757
• MyVariant Identifiers: chr5:g.56155653C>T (hg19) ; chr5:g.56859826C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56859826C>T , CM000667.2:g.56859826C>T	GRCh38
NC_000005.9:g.56155653C>T , CM000667.1:g.56155653C>T	GRCh37
NC_000005.8:g.56191410C>T	NCBI36
NG_031884.1:g.49754C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.745C>T MANE Select	ENSP00000382423.3:p.Arg249Cys
ENST00000399503.3:c.745C>T	ENSP00000382423.3:p.Arg249Cys
NM_005921.1:c.745C>T	NP_005912.1:p.Arg249Cys
XM_005248519.3:c.367C>T	XP_005248576.2:p.Arg123Cys
XM_011543406.1:c.490C>T	XP_011541708.1:p.Arg164Cys
XM_011543407.1:c.745C>T	XP_011541709.1:p.Arg249Cys
XM_011543408.1:c.745C>T	XP_011541710.1:p.Arg249Cys
XM_017009484.1:c.334C>T	XP_016864973.1:p.Arg112Cys
XM_017009485.1:c.256C>T	XP_016864974.1:p.Arg86Cys
XR_001742068.2:n.776C>T
NM_005921.2:c.745C>T MANE Select	NP_005912.1:p.Arg249Cys