Canonical Allele Identifier: CA359787723

Gene: MAP3K1

Linked Data

• dbSNP Id: rs2111945913
• gnomAD v4: 5-56882330-C-T
• MyVariant Identifiers: chr5:g.56178157C>T (hg19) ; chr5:g.56882330C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56882330C>T , CM000667.2:g.56882330C>T	GRCh38
NC_000005.9:g.56178157C>T , CM000667.1:g.56178157C>T	GRCh37
NC_000005.8:g.56213914C>T	NCBI36
NG_031884.1:g.72258C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.3130C>T MANE Select	ENSP00000382423.3:p.Pro1044Ser
ENST00000399503.3:c.3130C>T	ENSP00000382423.3:p.Pro1044Ser
NM_005921.1:c.3130C>T	NP_005912.1:p.Pro1044Ser
XM_005248519.3:c.2752C>T	XP_005248576.2:p.Pro918Ser
XM_011543406.1:c.2875C>T	XP_011541708.1:p.Pro959Ser
XM_011543407.1:c.2851C>T	XP_011541709.1:p.Pro951Ser
XM_011543408.1:c.3130C>T	XP_011541710.1:p.Pro1044Ser
XM_017009484.1:c.2719C>T	XP_016864973.1:p.Pro907Ser
XM_017009485.1:c.2641C>T	XP_016864974.1:p.Pro881Ser
XR_001742068.2:n.3161C>T
NM_005921.2:c.3130C>T MANE Select	NP_005912.1:p.Pro1044Ser