Canonical Allele Identifier: CA1759222367
Gene: CSMD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.4285548A= , CM000670.2:g.4285548A= GRCh38
NC_000008.10:g.4143070A= , CM000670.1:g.4143070A= GRCh37
NC_000008.9:g.4130478A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000635120.2:c.415+134405T= MANE Select ENSP00000489225.1:n.415+134405T=
ENST00000400186.7:c.415+134405T= ENSP00000383047.3:n.415+134405T=
ENST00000520002.5:c.415+134405T= ENSP00000430733.1:n.415+134405T=
ENST00000602557.5:c.415+134405T= ENSP00000473359.1:n.415+134405T=
ENST00000602723.5:c.415+134405T= ENSP00000473617.1:n.415+134405T=
ENST00000635120.1:c.415+134405T= ENSP00000489225.1:n.415+134405T=
NM_033225.5:c.415+134405T= NP_150094.5:n.415+134405T=
XM_011534752.1:c.415+134405T= XP_011533054.1:n.415+134405T=
XM_011534752.2:c.415+134405T= XP_011533054.1:n.415+134405T=
XM_017013731.1:c.415+134405T= XP_016869220.1:n.415+134405T=
NM_033225.6:c.415+134405T= MANE Select NP_150094.5:n.415+134405T=