Canonical Allele Identifier: CA410407836

Gene: CSTB

Linked Data

• MyVariant Identifiers: chr21:g.45194148T>A (hg19) ; chr21:g.43774267T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43774267T>A , CM000683.2:g.43774267T>A	GRCh38
NC_000021.8:g.45194148T>A , CM000683.1:g.45194148T>A	GRCh37
NC_000021.7:g.44018576T>A	NCBI36
NG_011545.1:g.7112A>T , LRG_485:g.7112A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291568.7:c.232A>T MANE Select	ENSP00000291568.6:p.Lys78Ter
ENST00000480147.3:n.2002A>T
ENST00000639959.1:c.99A>T
ENST00000640406.1:c.*307A>T	ENSP00000492672.1:n.*307A>T
ENST00000675996.1:n.657A>T
ENST00000291568.5:c.232A>T	ENSP00000291568.5:p.Lys78Ter
ENST00000480147.1:n.596A>T
NM_000100.3:c.232A>T , LRG_485t1:c.232A>T	NP_000091.1:p.Lys78Ter
NM_000100.4:c.232A>T MANE Select	NP_000091.1:p.Lys78Ter