Canonical Allele Identifier: CA410407839

Gene: CSTB

Linked Data

• ClinVar Variation Id: 1005500
• ClinVar RCV Id: RCV001302382
• dbSNP Id: rs2083999131
• MyVariant Identifiers: chr21:g.45194148T>G (hg19) ; chr21:g.43774267T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291568.7:c.232A>C MANE Select	ENSP00000291568.6:p.Lys78Gln
ENST00000480147.3:n.2002A>C
ENST00000639959.1:c.99A>C
ENST00000640406.1:c.*307A>C	ENSP00000492672.1:n.*307A>C
ENST00000675996.1:n.657A>C
ENST00000291568.5:c.232A>C	ENSP00000291568.5:p.Lys78Gln
ENST00000480147.1:n.596A>C
NM_000100.3:c.232A>C , LRG_485t1:c.232A>C	NP_000091.1:p.Lys78Gln
NM_000100.4:c.232A>C MANE Select	NP_000091.1:p.Lys78Gln