Canonical Allele Identifier: CA410407747

Gene: CSTB

Linked Data

• MyVariant Identifiers: chr21:g.45194126T>C (hg19) ; chr21:g.43774245T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43774245T>C , CM000683.2:g.43774245T>C	GRCh38
NC_000021.8:g.45194126T>C , CM000683.1:g.45194126T>C	GRCh37
NC_000021.7:g.44018554T>C	NCBI36
NG_011545.1:g.7134A>G , LRG_485:g.7134A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291568.7:c.254A>G MANE Select	ENSP00000291568.6:p.Tyr85Cys
ENST00000480147.3:n.2024A>G
ENST00000639959.1:c.121A>G
ENST00000640406.1:c.*329A>G	ENSP00000492672.1:n.*329A>G
ENST00000675996.1:n.679A>G
ENST00000291568.5:c.254A>G	ENSP00000291568.5:p.Tyr85Cys
ENST00000480147.1:n.618A>G
NM_000100.3:c.254A>G , LRG_485t1:c.254A>G	NP_000091.1:p.Tyr85Cys
NM_000100.4:c.254A>G MANE Select	NP_000091.1:p.Tyr85Cys