Canonical Allele Identifier: CA3273134

Gene: MAP3K1

Linked Data

• dbSNP Id: rs768559085
• ExAC: 5:56178226 C / A
• gnomAD v2: 5-56178226-C-A
• gnomAD v4: 5-56882399-C-A
• MyVariant Identifiers: chr5:g.56178226C>A (hg19) ; chr5:g.56882399C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56882399C>A , CM000667.2:g.56882399C>A	GRCh38
NC_000005.9:g.56178226C>A , CM000667.1:g.56178226C>A	GRCh37
NC_000005.8:g.56213983C>A	NCBI36
NG_031884.1:g.72327C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.3199C>A MANE Select	ENSP00000382423.3:p.Pro1067Thr
ENST00000399503.3:c.3199C>A	ENSP00000382423.3:p.Pro1067Thr
NM_005921.1:c.3199C>A	NP_005912.1:p.Pro1067Thr
XM_005248519.3:c.2821C>A	XP_005248576.2:p.Pro941Thr
XM_011543406.1:c.2944C>A	XP_011541708.1:p.Pro982Thr
XM_011543407.1:c.2920C>A	XP_011541709.1:p.Pro974Thr
XM_011543408.1:c.3199C>A	XP_011541710.1:p.Pro1067Thr
XM_017009484.1:c.2788C>A	XP_016864973.1:p.Pro930Thr
XM_017009485.1:c.2710C>A	XP_016864974.1:p.Pro904Thr
XR_001742068.2:n.3230C>A
NM_005921.2:c.3199C>A MANE Select	NP_005912.1:p.Pro1067Thr