Canonical Allele Identifier: CA170977718

Gene: CSMD1

Linked Data

• dbSNP Id: rs1011433272
• gnomAD v2: 8-4142974-A-G
• gnomAD v3: 8-4285452-A-G
• gnomAD v4: 8-4285452-A-G
• MyVariant Identifiers: chr8:g.4142974A>G (hg19) ; chr8:g.4285452A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.4285452A>G , CM000670.2:g.4285452A>G	GRCh38
NC_000008.10:g.4142974A>G , CM000670.1:g.4142974A>G	GRCh37
NC_000008.9:g.4130382A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000635120.2:c.415+134501T>C MANE Select	ENSP00000489225.1:n.415+134501T>C
ENST00000400186.7:c.415+134501T>C	ENSP00000383047.3:n.415+134501T>C
ENST00000520002.5:c.415+134501T>C	ENSP00000430733.1:n.415+134501T>C
ENST00000602557.5:c.415+134501T>C	ENSP00000473359.1:n.415+134501T>C
ENST00000602723.5:c.415+134501T>C	ENSP00000473617.1:n.415+134501T>C
ENST00000635120.1:c.415+134501T>C	ENSP00000489225.1:n.415+134501T>C
NM_033225.5:c.415+134501T>C	NP_150094.5:n.415+134501T>C
XM_011534752.1:c.415+134501T>C	XP_011533054.1:n.415+134501T>C
XM_011534752.2:c.415+134501T>C	XP_011533054.1:n.415+134501T>C
XM_017013731.1:c.415+134501T>C	XP_016869220.1:n.415+134501T>C
NM_033225.6:c.415+134501T>C MANE Select	NP_150094.5:n.415+134501T>C