Canonical Allele Identifier: CA850592278

Gene: CSMD1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.2962287T>A , CM000670.2:g.2962287T>A	GRCh38
NC_000008.10:g.2819809T>A , CM000670.1:g.2819809T>A	GRCh37
NC_000008.9:g.2807216T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000635120.2:c.9628+179A>T MANE Select	ENSP00000489225.1:n.9628+179A>T
ENST00000335551.11:c.7880+179A>T
ENST00000400186.7:c.9100+179A>T	ENSP00000383047.3:n.9100+179A>T
ENST00000520002.5:c.9631+179A>T	ENSP00000430733.1:n.9631+179A>T
ENST00000537824.2:c.9214+179A>T	ENSP00000441462.2:n.9214+179A>T
ENST00000602557.5:c.9631+179A>T	ENSP00000473359.1:n.9631+179A>T
ENST00000602723.5:c.9100+179A>T	ENSP00000473617.1:n.9100+179A>T
ENST00000635120.1:c.9628+179A>T	ENSP00000489225.1:n.9628+179A>T
NM_033225.5:c.9628+179A>T	NP_150094.5:n.9628+179A>T
XM_011534752.1:c.9628+179A>T	XP_011533054.1:n.9628+179A>T
XM_011534753.1:c.6721+179A>T	XP_011533055.1:n.6721+179A>T
XM_011534754.1:c.5650+179A>T	XP_011533056.1:n.5650+179A>T
XM_011534752.2:c.9628+179A>T	XP_011533054.1:n.9628+179A>T
XM_011534753.3:c.6721+179A>T	XP_011533055.1:n.6721+179A>T
XM_017013731.1:c.9628+179A>T	XP_016869220.1:n.9628+179A>T
NM_033225.6:c.9628+179A>T MANE Select	NP_150094.5:n.9628+179A>T
NR_168441.1:n.1167-38718T>A
NR_168442.1:n.2191+35657T>A
NR_168443.1:n.1172-46281T>A
NR_168444.1:n.1167-27251T>A
NR_168445.1:n.1250-27251T>A