Canonical Allele Identifier: CA359781087

Gene: MAP3K1

Linked Data

• dbSNP Id: rs2111921345
• MyVariant Identifiers: chr5:g.56171037C>T (hg19) ; chr5:g.56875210C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56875210C>T , CM000667.2:g.56875210C>T	GRCh38
NC_000005.9:g.56171037C>T , CM000667.1:g.56171037C>T	GRCh37
NC_000005.8:g.56206794C>T	NCBI36
NG_031884.1:g.65138C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000399503.4:c.1865C>T MANE Select	ENSP00000382423.3:p.Ser622Phe
ENST00000399503.3:c.1865C>T	ENSP00000382423.3:p.Ser622Phe
NM_005921.1:c.1865C>T	NP_005912.1:p.Ser622Phe
XM_005248519.3:c.1487C>T	XP_005248576.2:p.Ser496Phe
XM_011543406.1:c.1610C>T	XP_011541708.1:p.Ser537Phe
XM_011543407.1:c.1686+2205C>T	XP_011541709.1:n.1686+2205C>T
XM_011543408.1:c.1865C>T	XP_011541710.1:p.Ser622Phe
XM_017009484.1:c.1454C>T	XP_016864973.1:p.Ser485Phe
XM_017009485.1:c.1376C>T	XP_016864974.1:p.Ser459Phe
XR_001742068.2:n.1896C>T
NM_005921.2:c.1865C>T MANE Select	NP_005912.1:p.Ser622Phe