Canonical Allele Identifier: CA2580791314
Community Standard Title: NM_033225.6(CSMD1):c.818+111721A=
Gene: CSMD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.3886182T= , CM000670.2:g.3886182T= GRCh38
NC_000008.10:g.3743704T= , CM000670.1:g.3743704T= GRCh37
NC_000008.9:g.3731112T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_033225.6:c.818+111721A= MANE Select NP_150094.5:n.818+111721A=
ENST00000635120.2:c.818+111721A= MANE Select ENSP00000489225.1:n.818+111721A=
NM_033225.5:c.818+111721A= NP_150094.5:n.818+111721A=
ENST00000400186.7:c.818+111721A= ENSP00000383047.3:n.818+111721A=
ENST00000520002.5:c.818+111721A= ENSP00000430733.1:n.818+111721A=
ENST00000537824.2:c.408+63774A= ENSP00000441462.2:n.408+63774A=
ENST00000602557.5:c.818+111721A= ENSP00000473359.1:n.818+111721A=
ENST00000602723.5:c.818+111721A= ENSP00000473617.1:n.818+111721A=
ENST00000635120.1:c.818+111721A= ENSP00000489225.1:n.818+111721A=
XM_011534752.1:c.818+111721A= XP_011533054.1:n.818+111721A=
XM_011534752.2:c.818+111721A= XP_011533054.1:n.818+111721A=
XM_017013731.1:c.818+111721A= XP_016869220.1:n.818+111721A=