Canonical Allele Identifier: CA359787535

Gene: MAP3K1

Linked Data

• dbSNP Id: rs2111945047
• gnomAD v4: 5-56882243-C-T
• MyVariant Identifiers: chr5:g.56178070C>T (hg19) ; chr5:g.56882243C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56882243C>T , CM000667.2:g.56882243C>T	GRCh38
NC_000005.9:g.56178070C>T , CM000667.1:g.56178070C>T	GRCh37
NC_000005.8:g.56213827C>T	NCBI36
NG_031884.1:g.72171C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.3043C>T MANE Select	ENSP00000382423.3:p.Pro1015Ser
ENST00000399503.3:c.3043C>T	ENSP00000382423.3:p.Pro1015Ser
NM_005921.1:c.3043C>T	NP_005912.1:p.Pro1015Ser
XM_005248519.3:c.2665C>T	XP_005248576.2:p.Pro889Ser
XM_011543406.1:c.2788C>T	XP_011541708.1:p.Pro930Ser
XM_011543407.1:c.2764C>T	XP_011541709.1:p.Pro922Ser
XM_011543408.1:c.3043C>T	XP_011541710.1:p.Pro1015Ser
XM_017009484.1:c.2632C>T	XP_016864973.1:p.Pro878Ser
XM_017009485.1:c.2554C>T	XP_016864974.1:p.Pro852Ser
XR_001742068.2:n.3074C>T
NM_005921.2:c.3043C>T MANE Select	NP_005912.1:p.Pro1015Ser