Canonical Allele Identifier: CA359802558

Gene: MAP3K1

Linked Data

• dbSNP Id: rs2111874376
• gnomAD v4: 5-56859835-T-C
• MyVariant Identifiers: chr5:g.56155662T>C (hg19) ; chr5:g.56859835T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56859835T>C , CM000667.2:g.56859835T>C	GRCh38
NC_000005.9:g.56155662T>C , CM000667.1:g.56155662T>C	GRCh37
NC_000005.8:g.56191419T>C	NCBI36
NG_031884.1:g.49763T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.754T>C MANE Select	ENSP00000382423.3:p.Ser252Pro
ENST00000399503.3:c.754T>C	ENSP00000382423.3:p.Ser252Pro
NM_005921.1:c.754T>C	NP_005912.1:p.Ser252Pro
XM_005248519.3:c.376T>C	XP_005248576.2:p.Ser126Pro
XM_011543406.1:c.499T>C	XP_011541708.1:p.Ser167Pro
XM_011543407.1:c.754T>C	XP_011541709.1:p.Ser252Pro
XM_011543408.1:c.754T>C	XP_011541710.1:p.Ser252Pro
XM_017009484.1:c.343T>C	XP_016864973.1:p.Ser115Pro
XM_017009485.1:c.265T>C	XP_016864974.1:p.Ser89Pro
XR_001742068.2:n.785T>C
NM_005921.2:c.754T>C MANE Select	NP_005912.1:p.Ser252Pro