Canonical Allele Identifier: CA850912726

Gene: CSMD1

Linked Data

• dbSNP Id: rs1219849607
• gnomAD v3: 8-3289868-T-G
• gnomAD v4: 8-3289868-T-G
• MyVariant Identifiers: chr8:g.3147390T>G (hg19) ; chr8:g.3289868T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.3289868T>G , CM000670.2:g.3289868T>G	GRCh38
NC_000008.10:g.3147390T>G , CM000670.1:g.3147390T>G	GRCh37
NC_000008.9:g.3134797T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000635120.2:c.3951-5522A>C MANE Select	ENSP00000489225.1:n.3951-5522A>C
ENST00000335551.11:c.2392-5522A>C
ENST00000400186.7:c.3954-5522A>C	ENSP00000383047.3:n.3954-5522A>C
ENST00000520002.5:c.3954-5522A>C	ENSP00000430733.1:n.3954-5522A>C
ENST00000523488.5:n.1484-5522A>C
ENST00000537824.2:c.3537-5522A>C	ENSP00000441462.2:n.3537-5522A>C
ENST00000602557.5:c.3954-5522A>C	ENSP00000473359.1:n.3954-5522A>C
ENST00000602723.5:c.3954-5522A>C	ENSP00000473617.1:n.3954-5522A>C
ENST00000635120.1:c.3951-5522A>C	ENSP00000489225.1:n.3951-5522A>C
NM_033225.5:c.3951-5522A>C	NP_150094.5:n.3951-5522A>C
XM_011534752.1:c.3951-5522A>C	XP_011533054.1:n.3951-5522A>C
XM_011534753.1:c.1044-5522A>C	XP_011533055.1:n.1044-5522A>C
XM_011534752.2:c.3951-5522A>C	XP_011533054.1:n.3951-5522A>C
XM_011534753.3:c.1044-5522A>C	XP_011533055.1:n.1044-5522A>C
XM_017013731.1:c.3951-5522A>C	XP_016869220.1:n.3951-5522A>C
NM_033225.6:c.3951-5522A>C MANE Select	NP_150094.5:n.3951-5522A>C