Canonical Allele Identifier: CA359802451

Gene: MAP3K1

Linked Data

• dbSNP Id: rs2111873944
• COSMIC: COSM5939384
• MyVariant Identifiers: chr5:g.56155606C>T (hg19) ; chr5:g.56859779C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56859779C>T , CM000667.2:g.56859779C>T	GRCh38
NC_000005.9:g.56155606C>T , CM000667.1:g.56155606C>T	GRCh37
NC_000005.8:g.56191363C>T	NCBI36
NG_031884.1:g.49707C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.698C>T MANE Select	ENSP00000382423.3:p.Pro233Leu
ENST00000399503.3:c.698C>T	ENSP00000382423.3:p.Pro233Leu
NM_005921.1:c.698C>T	NP_005912.1:p.Pro233Leu
XM_005248519.3:c.320C>T	XP_005248576.2:p.Pro107Leu
XM_011543406.1:c.443C>T	XP_011541708.1:p.Pro148Leu
XM_011543407.1:c.698C>T	XP_011541709.1:p.Pro233Leu
XM_011543408.1:c.698C>T	XP_011541710.1:p.Pro233Leu
XM_017009484.1:c.287C>T	XP_016864973.1:p.Pro96Leu
XM_017009485.1:c.209C>T	XP_016864974.1:p.Pro70Leu
XR_001742068.2:n.729C>T
NM_005921.2:c.698C>T MANE Select	NP_005912.1:p.Pro233Leu