Canonical Allele Identifier: CA359787656

Gene: MAP3K1

Linked Data

• dbSNP Id: rs1313918279
• gnomAD v2: 5-56178127-C-T
• gnomAD v3: 5-56882300-C-T
• gnomAD v4: 5-56882300-C-T
• COSMIC: COSM5029162
• MyVariant Identifiers: chr5:g.56178127C>T (hg19) ; chr5:g.56882300C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56882300C>T , CM000667.2:g.56882300C>T	GRCh38
NC_000005.9:g.56178127C>T , CM000667.1:g.56178127C>T	GRCh37
NC_000005.8:g.56213884C>T	NCBI36
NG_031884.1:g.72228C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.3100C>T MANE Select	ENSP00000382423.3:p.Pro1034Ser
ENST00000399503.3:c.3100C>T	ENSP00000382423.3:p.Pro1034Ser
NM_005921.1:c.3100C>T	NP_005912.1:p.Pro1034Ser
XM_005248519.3:c.2722C>T	XP_005248576.2:p.Pro908Ser
XM_011543406.1:c.2845C>T	XP_011541708.1:p.Pro949Ser
XM_011543407.1:c.2821C>T	XP_011541709.1:p.Pro941Ser
XM_011543408.1:c.3100C>T	XP_011541710.1:p.Pro1034Ser
XM_017009484.1:c.2689C>T	XP_016864973.1:p.Pro897Ser
XM_017009485.1:c.2611C>T	XP_016864974.1:p.Pro871Ser
XR_001742068.2:n.3131C>T
NM_005921.2:c.3100C>T MANE Select	NP_005912.1:p.Pro1034Ser