Canonical Allele Identifier: CA359802528

Gene: MAP3K1

Linked Data

• MyVariant Identifiers: chr5:g.56155646A>C (hg19) ; chr5:g.56859819A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56859819A>C , CM000667.2:g.56859819A>C	GRCh38
NC_000005.9:g.56155646A>C , CM000667.1:g.56155646A>C	GRCh37
NC_000005.8:g.56191403A>C	NCBI36
NG_031884.1:g.49747A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.738A>C MANE Select	ENSP00000382423.3:p.Lys246Asn
ENST00000399503.3:c.738A>C	ENSP00000382423.3:p.Lys246Asn
NM_005921.1:c.738A>C	NP_005912.1:p.Lys246Asn
XM_005248519.3:c.360A>C	XP_005248576.2:p.Lys120Asn
XM_011543406.1:c.483A>C	XP_011541708.1:p.Lys161Asn
XM_011543407.1:c.738A>C	XP_011541709.1:p.Lys246Asn
XM_011543408.1:c.738A>C	XP_011541710.1:p.Lys246Asn
XM_017009484.1:c.327A>C	XP_016864973.1:p.Lys109Asn
XM_017009485.1:c.249A>C	XP_016864974.1:p.Lys83Asn
XR_001742068.2:n.769A>C
NM_005921.2:c.738A>C MANE Select	NP_005912.1:p.Lys246Asn