Canonical Allele Identifier: CA359802503

Gene: MAP3K1

Linked Data

• dbSNP Id: rs2111874160
• MyVariant Identifiers: chr5:g.56155633C>T (hg19) ; chr5:g.56859806C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56859806C>T , CM000667.2:g.56859806C>T	GRCh38
NC_000005.9:g.56155633C>T , CM000667.1:g.56155633C>T	GRCh37
NC_000005.8:g.56191390C>T	NCBI36
NG_031884.1:g.49734C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.725C>T MANE Select	ENSP00000382423.3:p.Ser242Leu
ENST00000399503.3:c.725C>T	ENSP00000382423.3:p.Ser242Leu
NM_005921.1:c.725C>T	NP_005912.1:p.Ser242Leu
XM_005248519.3:c.347C>T	XP_005248576.2:p.Ser116Leu
XM_011543406.1:c.470C>T	XP_011541708.1:p.Ser157Leu
XM_011543407.1:c.725C>T	XP_011541709.1:p.Ser242Leu
XM_011543408.1:c.725C>T	XP_011541710.1:p.Ser242Leu
XM_017009484.1:c.314C>T	XP_016864973.1:p.Ser105Leu
XM_017009485.1:c.236C>T	XP_016864974.1:p.Ser79Leu
XR_001742068.2:n.756C>T
NM_005921.2:c.725C>T MANE Select	NP_005912.1:p.Ser242Leu