Canonical Allele Identifier: CA170737370

Gene: CSMD1

Linked Data

• dbSNP Id: rs1036401185
• MyVariant Identifiers: chr8:g.3088693T>G (hg19) ; chr8:g.3231171T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.3231171T>G , CM000670.2:g.3231171T>G	GRCh38
NC_000008.10:g.3088693T>G , CM000670.1:g.3088693T>G	GRCh37
NC_000008.9:g.3076100T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000635120.2:c.4154-940A>C MANE Select	ENSP00000489225.1:n.4154-940A>C
ENST00000335551.11:c.2595-940A>C
ENST00000400186.7:c.4157-940A>C	ENSP00000383047.3:n.4157-940A>C
ENST00000520002.5:c.4157-940A>C	ENSP00000430733.1:n.4157-940A>C
ENST00000523387.5:n.387-940A>C
ENST00000523488.5:n.1687-940A>C
ENST00000537824.2:c.3740-940A>C	ENSP00000441462.2:n.3740-940A>C
ENST00000602557.5:c.4157-940A>C	ENSP00000473359.1:n.4157-940A>C
ENST00000602723.5:c.4157-940A>C	ENSP00000473617.1:n.4157-940A>C
ENST00000635120.1:c.4154-940A>C	ENSP00000489225.1:n.4154-940A>C
NM_033225.5:c.4154-940A>C	NP_150094.5:n.4154-940A>C
XM_011534752.1:c.4154-940A>C	XP_011533054.1:n.4154-940A>C
XM_011534753.1:c.1247-940A>C	XP_011533055.1:n.1247-940A>C
XM_011534754.1:c.176-940A>C	XP_011533056.1:n.176-940A>C
XM_011534752.2:c.4154-940A>C	XP_011533054.1:n.4154-940A>C
XM_011534753.3:c.1247-940A>C	XP_011533055.1:n.1247-940A>C
XM_017013731.1:c.4154-940A>C	XP_016869220.1:n.4154-940A>C
NM_033225.6:c.4154-940A>C MANE Select	NP_150094.5:n.4154-940A>C