Canonical Allele Identifier: CA444391641
Gene: MAP3K1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.56155592A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.56859765A>G , CM000667.2:g.56859765A>G GRCh38
NC_000005.9:g.56155592A>G , CM000667.1:g.56155592A>G GRCh37
NC_000005.8:g.56191349A>G NCBI36
NG_031884.1:g.49693A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000399503.4:c.684A>G MANE Select ENSP00000382423.3:p.Leu228=
ENST00000399503.3:c.684A>G ENSP00000382423.3:p.Leu228=
NM_005921.1:c.684A>G NP_005912.1:p.Leu228=
XM_005248519.3:c.306A>G XP_005248576.2:p.Leu102=
XM_011543406.1:c.429A>G XP_011541708.1:p.Leu143=
XM_011543407.1:c.684A>G XP_011541709.1:p.Leu228=
XM_011543408.1:c.684A>G XP_011541710.1:p.Leu228=
XM_017009484.1:c.273A>G XP_016864973.1:p.Leu91=
XM_017009485.1:c.195A>G XP_016864974.1:p.Leu65=
XR_001742068.2:n.715A>G
NM_005921.2:c.684A>G MANE Select NP_005912.1:p.Leu228=