Canonical Allele Identifier: CA3273125

Gene: MAP3K1

Linked Data

• dbSNP Id: rs755413206
• ExAC: 5:56178167 C / T
• gnomAD v2: 5-56178167-C-T
• gnomAD v3: 5-56882340-C-T
• gnomAD v4: 5-56882340-C-T
• MyVariant Identifiers: chr5:g.56178167C>T (hg19) ; chr5:g.56882340C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56882340C>T , CM000667.2:g.56882340C>T	GRCh38
NC_000005.9:g.56178167C>T , CM000667.1:g.56178167C>T	GRCh37
NC_000005.8:g.56213924C>T	NCBI36
NG_031884.1:g.72268C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.3140C>T MANE Select	ENSP00000382423.3:p.Thr1047Ile
ENST00000399503.3:c.3140C>T	ENSP00000382423.3:p.Thr1047Ile
NM_005921.1:c.3140C>T	NP_005912.1:p.Thr1047Ile
XM_005248519.3:c.2762C>T	XP_005248576.2:p.Thr921Ile
XM_011543406.1:c.2885C>T	XP_011541708.1:p.Thr962Ile
XM_011543407.1:c.2861C>T	XP_011541709.1:p.Thr954Ile
XM_011543408.1:c.3140C>T	XP_011541710.1:p.Thr1047Ile
XM_017009484.1:c.2729C>T	XP_016864973.1:p.Thr910Ile
XM_017009485.1:c.2651C>T	XP_016864974.1:p.Thr884Ile
XR_001742068.2:n.3171C>T
NM_005921.2:c.3140C>T MANE Select	NP_005912.1:p.Thr1047Ile