Canonical Allele Identifier: CA851608290

Gene: CSMD1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.3970616C>G , CM000670.2:g.3970616C>G	GRCh38
NC_000008.10:g.3828138C>G , CM000670.1:g.3828138C>G	GRCh37
NC_000008.9:g.3815546C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000635120.2:c.818+27287G>C MANE Select	ENSP00000489225.1:n.818+27287G>C
ENST00000400186.7:c.818+27287G>C	ENSP00000383047.3:n.818+27287G>C
ENST00000520002.5:c.818+27287G>C	ENSP00000430733.1:n.818+27287G>C
ENST00000537824.2:c.405-20657G>C	ENSP00000441462.2:n.405-20657G>C
ENST00000602557.5:c.818+27287G>C	ENSP00000473359.1:n.818+27287G>C
ENST00000602723.5:c.818+27287G>C	ENSP00000473617.1:n.818+27287G>C
ENST00000635120.1:c.818+27287G>C	ENSP00000489225.1:n.818+27287G>C
NM_033225.5:c.818+27287G>C	NP_150094.5:n.818+27287G>C
XM_011534752.1:c.818+27287G>C	XP_011533054.1:n.818+27287G>C
XM_011534752.2:c.818+27287G>C	XP_011533054.1:n.818+27287G>C
XM_017013731.1:c.818+27287G>C	XP_016869220.1:n.818+27287G>C
NM_033225.6:c.818+27287G>C MANE Select	NP_150094.5:n.818+27287G>C