Canonical Allele Identifier: CA2838247462

Gene: CSMD1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.4678847T>A , CM000670.2:g.4678847T>A	GRCh38
NC_000008.10:g.4536369T>A , CM000670.1:g.4536369T>A	GRCh37
NC_000008.9:g.4523777T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000635120.2:c.86-41289A>T MANE Select	ENSP00000489225.1:n.86-41289A>T
ENST00000400186.7:c.86-41289A>T	ENSP00000383047.3:n.86-41289A>T
ENST00000520002.5:c.86-41289A>T	ENSP00000430733.1:n.86-41289A>T
ENST00000602557.5:c.86-41289A>T	ENSP00000473359.1:n.86-41289A>T
ENST00000602723.5:c.86-41289A>T	ENSP00000473617.1:n.86-41289A>T
ENST00000635120.1:c.86-41289A>T	ENSP00000489225.1:n.86-41289A>T
NM_033225.5:c.86-41289A>T	NP_150094.5:n.86-41289A>T
XM_011534752.1:c.86-41289A>T	XP_011533054.1:n.86-41289A>T
XM_011534752.2:c.86-41289A>T	XP_011533054.1:n.86-41289A>T
XM_017013731.1:c.86-41289A>T	XP_016869220.1:n.86-41289A>T
NM_033225.6:c.86-41289A>T MANE Select	NP_150094.5:n.86-41289A>T