Canonical Allele Identifier: CA2391345959
Gene: CSTB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43774194A= , CM000683.2:g.43774194A= GRCh38
NC_000021.8:g.45194075A= , CM000683.1:g.45194075A= GRCh37
NC_000021.7:g.44018503A= NCBI36
NG_011545.1:g.7185T= , LRG_485:g.7185T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000291568.7:c.*8T= MANE Select ENSP00000291568.6:n.*8T=
ENST00000480147.3:n.2075T=
ENST00000639959.1:c.172T=
ENST00000640406.1:c.*380T= ENSP00000492672.1:n.*380T=
ENST00000675996.1:n.730T=
ENST00000291568.5:c.*8T= ENSP00000291568.5:n.*8T=
ENST00000480147.1:n.669T=
NM_000100.3:c.*8T= , LRG_485t1:c.*8T= NP_000091.1:n.*8T=
NM_000100.4:c.*8T= MANE Select NP_000091.1:n.*8T=