Canonical Allele Identifier: CA410407885
Gene: CSTB HGNC NCBI

Linked Data

dbSNP Id: rs2083999223

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43774279G>A , CM000683.2:g.43774279G>A GRCh38
NC_000021.8:g.45194160G>A , CM000683.1:g.45194160G>A GRCh37
NC_000021.7:g.44018588G>A NCBI36
NG_011545.1:g.7100C>T , LRG_485:g.7100C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000291568.7:c.220C>T MANE Select ENSP00000291568.6:p.Pro74Ser
ENST00000480147.3:n.1990C>T
ENST00000639959.1:c.87C>T
ENST00000640406.1:c.*295C>T ENSP00000492672.1:n.*295C>T
ENST00000675996.1:n.645C>T
ENST00000291568.5:c.220C>T ENSP00000291568.5:p.Pro74Ser
ENST00000480147.1:n.584C>T
NM_000100.3:c.220C>T , LRG_485t1:c.220C>T NP_000091.1:p.Pro74Ser
NM_000100.4:c.220C>T MANE Select NP_000091.1:p.Pro74Ser