Canonical Allele Identifier: CA8978072
Community Standard Title: NM_006785.4(MALT1):c.2184A>G (p.Gln728=)
Gene: MALT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.58747551A>G , CM000680.2:g.58747551A>G GRCh38
NC_000018.9:g.56414783A>G , CM000680.1:g.56414783A>G GRCh37
NC_000018.8:g.54565763A>G NCBI36
NG_033893.1:g.81166A>G
NG_033893.2:g.81166A>G

Transcript Alleles

HGVS Amino-acid Change
NM_006785.4:c.2184A>G MANE Select NP_006776.1:p.Gln728=
ENST00000649217.2:c.2184A>G MANE Select ENSP00000497997.1:p.Gln728=
NM_006785.3:c.2184A>G NP_006776.1:p.Gln728=
NM_173844.2:c.2151A>G NP_776216.1:p.Gln717=
NM_173844.3:c.2151A>G NP_776216.1:p.Gln717=
ENST00000345724.7:c.2151A>G ENSP00000304161.3:p.Gln717=
ENST00000348428.7:c.2184A>G ENSP00000319279.4:p.Gln728=
ENST00000587438.2:n.3192A>G
ENST00000589873.5:n.1766A>G
ENST00000648670.1:c.1838A>G ENSP00000497173.1:n.1838A>G
ENST00000649125.1:n.2094A>G
ENST00000649202.1:n.1973A>G
ENST00000650045.1:c.*876A>G ENSP00000497036.1:n.*876A>G
ENST00000650355.1:n.1164A>G
ENST00000697046.1:n.2068A>G
XR_001753134.1:n.2593A>G
XR_001753135.1:n.2560A>G
XR_001753136.1:n.2507A>G
XR_935538.1:n.77+32607T>C