Canonical Allele Identifier: CA2391346190
Gene: CSTB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43774658C= , CM000683.2:g.43774658C= GRCh38
NC_000021.8:g.45194539C= , CM000683.1:g.45194539C= GRCh37
NC_000021.7:g.44018967C= NCBI36
NG_011545.1:g.6721G= , LRG_485:g.6721G=

Transcript Alleles

HGVS Amino-acid change
ENST00000291568.7:c.168G= MANE Select ENSP00000291568.6:p.Lys56=
ENST00000480147.3:n.1611G=
ENST00000639959.1:c.36-328G=
ENST00000640406.1:c.168G= ENSP00000492672.1:p.Lys56=
ENST00000675996.1:n.593G=
ENST00000291568.5:c.168G= ENSP00000291568.5:p.Lys56=
ENST00000480147.1:n.205G=
NM_000100.3:c.168G= , LRG_485t1:c.168G= NP_000091.1:p.Lys56=
NM_000100.4:c.168G= MANE Select NP_000091.1:p.Lys56=