Canonical Allele Identifier: CA3273030

Gene: MAP3K1

Linked Data

• dbSNP Id: rs755905626
• ExAC: 5:56177635 C / T
• gnomAD v2: 5-56177635-C-T
• MyVariant Identifiers: chr5:g.56177635C>T (hg19) ; chr5:g.56881808C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56881808C>T , CM000667.2:g.56881808C>T	GRCh38
NC_000005.9:g.56177635C>T , CM000667.1:g.56177635C>T	GRCh37
NC_000005.8:g.56213392C>T	NCBI36
NG_031884.1:g.71736C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.2608C>T MANE Select	ENSP00000382423.3:p.Gln870Ter
ENST00000399503.3:c.2608C>T	ENSP00000382423.3:p.Gln870Ter
NM_005921.1:c.2608C>T	NP_005912.1:p.Gln870Ter
XM_005248519.3:c.2230C>T	XP_005248576.2:p.Gln744Ter
XM_011543406.1:c.2353C>T	XP_011541708.1:p.Gln785Ter
XM_011543407.1:c.2329C>T	XP_011541709.1:p.Gln777Ter
XM_011543408.1:c.2608C>T	XP_011541710.1:p.Gln870Ter
XM_017009484.1:c.2197C>T	XP_016864973.1:p.Gln733Ter
XM_017009485.1:c.2119C>T	XP_016864974.1:p.Gln707Ter
XR_001742068.2:n.2639C>T
NM_005921.2:c.2608C>T MANE Select	NP_005912.1:p.Gln870Ter