Canonical Allele Identifier: CA3273135

Gene: MAP3K1

Linked Data

• dbSNP Id: rs778518101
• ExAC: 5:56178236 C / G
• gnomAD v2: 5-56178236-C-G
• gnomAD v3: 5-56882409-C-G
• gnomAD v4: 5-56882409-C-G
• MyVariant Identifiers: chr5:g.56178236C>G (hg19) ; chr5:g.56882409C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56882409C>G , CM000667.2:g.56882409C>G	GRCh38
NC_000005.9:g.56178236C>G , CM000667.1:g.56178236C>G	GRCh37
NC_000005.8:g.56213993C>G	NCBI36
NG_031884.1:g.72337C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.3209C>G MANE Select	ENSP00000382423.3:p.Thr1070Arg
ENST00000399503.3:c.3209C>G	ENSP00000382423.3:p.Thr1070Arg
NM_005921.1:c.3209C>G	NP_005912.1:p.Thr1070Arg
XM_005248519.3:c.2831C>G	XP_005248576.2:p.Thr944Arg
XM_011543406.1:c.2954C>G	XP_011541708.1:p.Thr985Arg
XM_011543407.1:c.2930C>G	XP_011541709.1:p.Thr977Arg
XM_011543408.1:c.3209C>G	XP_011541710.1:p.Thr1070Arg
XM_017009484.1:c.2798C>G	XP_016864973.1:p.Thr933Arg
XM_017009485.1:c.2720C>G	XP_016864974.1:p.Thr907Arg
XR_001742068.2:n.3240C>G
NM_005921.2:c.3209C>G MANE Select	NP_005912.1:p.Thr1070Arg