Canonical Allele Identifier: CA579330163

Gene: CSMD1

Linked Data

• dbSNP Id: rs1455483529
• gnomAD v2: 8-3147377-C-T
• gnomAD v3: 8-3289855-C-T
• gnomAD v4: 8-3289855-C-T
• MyVariant Identifiers: chr8:g.3147377C>T (hg19) ; chr8:g.3289855C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.3289855C>T , CM000670.2:g.3289855C>T	GRCh38
NC_000008.10:g.3147377C>T , CM000670.1:g.3147377C>T	GRCh37
NC_000008.9:g.3134784C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000635120.2:c.3951-5509G>A MANE Select	ENSP00000489225.1:n.3951-5509G>A
ENST00000335551.11:c.2392-5509G>A
ENST00000400186.7:c.3954-5509G>A	ENSP00000383047.3:n.3954-5509G>A
ENST00000520002.5:c.3954-5509G>A	ENSP00000430733.1:n.3954-5509G>A
ENST00000523488.5:n.1484-5509G>A
ENST00000537824.2:c.3537-5509G>A	ENSP00000441462.2:n.3537-5509G>A
ENST00000602557.5:c.3954-5509G>A	ENSP00000473359.1:n.3954-5509G>A
ENST00000602723.5:c.3954-5509G>A	ENSP00000473617.1:n.3954-5509G>A
ENST00000635120.1:c.3951-5509G>A	ENSP00000489225.1:n.3951-5509G>A
NM_033225.5:c.3951-5509G>A	NP_150094.5:n.3951-5509G>A
XM_011534752.1:c.3951-5509G>A	XP_011533054.1:n.3951-5509G>A
XM_011534753.1:c.1044-5509G>A	XP_011533055.1:n.1044-5509G>A
XM_011534752.2:c.3951-5509G>A	XP_011533054.1:n.3951-5509G>A
XM_011534753.3:c.1044-5509G>A	XP_011533055.1:n.1044-5509G>A
XM_017013731.1:c.3951-5509G>A	XP_016869220.1:n.3951-5509G>A
NM_033225.6:c.3951-5509G>A MANE Select	NP_150094.5:n.3951-5509G>A