Canonical Allele Identifier: CA4644324
Community Standard Title: NM_004686.5(MTMR7):c.274G>A (p.Asp92Asn)
Gene: MTMR7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.17371073C>T , CM000670.2:g.17371073C>T GRCh38
NC_000008.10:g.17228582C>T , CM000670.1:g.17228582C>T GRCh37
NC_000008.9:g.17272953C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_004686.5:c.274G>A MANE Select NP_004677.3:p.Asp92Asn
ENST00000180173.10:c.274G>A MANE Select ENSP00000180173.4:p.Asp92Asn
NM_004686.4:c.274G>A NP_004677.3:p.Asp92Asn
ENST00000180173.9:c.274G>A ENSP00000180173.4:p.Asp92Asn
ENST00000517317.5:c.274G>A ENSP00000431000.1:p.Asp92Asn
ENST00000521857.5:c.274G>A ENSP00000429733.1:p.Asp92Asn
XM_011544691.1:c.292G>A XP_011542993.1:p.Asp98Asn
XM_017013956.2:c.-458G>A XP_016869445.1:n.-458G>A
XM_024447325.1:c.-536G>A XP_024303093.1:n.-536G>A
XR_428318.2:n.233-8744C>T
XR_428318.3:n.641-8744C>T