Canonical Allele Identifier: CA8674444
Gene: MTMR4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.58508178A>G , CM000679.2:g.58508178A>G GRCh38
NC_000017.10:g.56585539A>G , CM000679.1:g.56585539A>G GRCh37
NC_000017.9:g.53940538A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000682306.1:c.690T>C MANE Select ENSP00000507664.1:p.Ile230=
ENST00000323456.9:c.648T>C ENSP00000325285.5:p.Ile216=
ENST00000579925.5:c.648T>C ENSP00000464067.1:p.Ile216=
ENST00000580983.1:n.438T>C
ENST00000582663.5:c.*190T>C ENSP00000464247.1:n.*190T>C
NM_004687.4:c.648T>C NP_004678.3:p.Ile216=
XM_005257784.2:c.690T>C XP_005257841.1:p.Ile230=
XM_005257785.3:c.660T>C XP_005257842.1:p.Ile220=
XM_005257786.3:c.648T>C XP_005257843.1:p.Ile216=
XM_006722168.2:c.648T>C XP_006722231.1:p.Ile216=
XM_011525460.1:c.660T>C XP_011523762.1:p.Ile220=
XM_005257785.5:c.660T>C XP_005257842.1:p.Ile220=
XM_005257786.5:c.648T>C XP_005257843.1:p.Ile216=
XM_006722168.4:c.648T>C XP_006722231.1:p.Ile216=
XM_011525460.3:c.660T>C XP_011523762.1:p.Ile220=
NM_004687.5:c.648T>C NP_004678.3:p.Ile216=
NM_001378066.1:c.660T>C NP_001364995.1:p.Ile220=
NM_001378067.1:c.690T>C MANE Select NP_001364996.1:p.Ile230=