Canonical Allele Identifier: CA170804381
Gene: CSMD1 HGNC NCBI

Linked Data

dbSNP Id: rs2623702
gnomAD v2: 8-3594906-T-C
gnomAD v3: 8-3737384-T-C
gnomAD v4: 8-3737384-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.3737384T>C , CM000670.2:g.3737384T>C GRCh38
NC_000008.10:g.3594906T>C , CM000670.1:g.3594906T>C GRCh37
NC_000008.9:g.3582314T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000635120.2:c.931+16546A>G MANE Select ENSP00000489225.1:n.931+16546A>G
ENST00000400186.7:c.931+16546A>G ENSP00000383047.3:n.931+16546A>G
ENST00000520002.5:c.931+16546A>G ENSP00000430733.1:n.931+16546A>G
ENST00000537824.2:c.517+16546A>G ENSP00000441462.2:n.517+16546A>G
ENST00000602557.5:c.931+16546A>G ENSP00000473359.1:n.931+16546A>G
ENST00000602723.5:c.931+16546A>G ENSP00000473617.1:n.931+16546A>G
ENST00000635120.1:c.931+16546A>G ENSP00000489225.1:n.931+16546A>G
NM_033225.5:c.931+16546A>G NP_150094.5:n.931+16546A>G
XM_011534752.1:c.931+16546A>G XP_011533054.1:n.931+16546A>G
XM_011534752.2:c.931+16546A>G XP_011533054.1:n.931+16546A>G
XM_017013731.1:c.931+16546A>G XP_016869220.1:n.931+16546A>G
NM_033225.6:c.931+16546A>G MANE Select NP_150094.5:n.931+16546A>G