Canonical Allele Identifier: CA579370721

Gene: CSMD1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.3852148G>C , CM000670.2:g.3852148G>C	GRCh38
NC_000008.10:g.3709670G>C , CM000670.1:g.3709670G>C	GRCh37
NC_000008.9:g.3697078G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_033225.6:c.819-98106C>G MANE Select	NP_150094.5:n.819-98106C>G
ENST00000635120.2:c.819-98106C>G MANE Select	ENSP00000489225.1:n.819-98106C>G
NM_033225.5:c.819-98106C>G	NP_150094.5:n.819-98106C>G
ENST00000400186.7:c.819-98106C>G	ENSP00000383047.3:n.819-98106C>G
ENST00000520002.5:c.819-98106C>G	ENSP00000430733.1:n.819-98106C>G
ENST00000537824.2:c.408+97808C>G	ENSP00000441462.2:n.408+97808C>G
ENST00000602557.5:c.819-98106C>G	ENSP00000473359.1:n.819-98106C>G
ENST00000602723.5:c.819-98106C>G	ENSP00000473617.1:n.819-98106C>G
ENST00000635120.1:c.819-98106C>G	ENSP00000489225.1:n.819-98106C>G
XM_011534752.1:c.819-98106C>G	XP_011533054.1:n.819-98106C>G
XM_011534752.2:c.819-98106C>G	XP_011533054.1:n.819-98106C>G
XM_017013731.1:c.819-98106C>G	XP_016869220.1:n.819-98106C>G