Canonical Allele Identifier: CA410407943

Gene: CSTB

Linked Data

• gnomAD v4: 21-43774294-C-G
• MyVariant Identifiers: chr21:g.45194175C>G (hg19) ; chr21:g.43774294C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43774294C>G , CM000683.2:g.43774294C>G	GRCh38
NC_000021.8:g.45194175C>G , CM000683.1:g.45194175C>G	GRCh37
NC_000021.7:g.44018603C>G	NCBI36
NG_011545.1:g.7085G>C , LRG_485:g.7085G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000291568.7:c.205G>C MANE Select	ENSP00000291568.6:p.Val69Leu
ENST00000480147.3:n.1975G>C
ENST00000639959.1:c.72G>C
ENST00000640406.1:c.*280G>C	ENSP00000492672.1:n.*280G>C
ENST00000675996.1:n.630G>C
ENST00000291568.5:c.205G>C	ENSP00000291568.5:p.Val69Leu
ENST00000480147.1:n.569G>C
NM_000100.3:c.205G>C , LRG_485t1:c.205G>C	NP_000091.1:p.Val69Leu
NM_000100.4:c.205G>C MANE Select	NP_000091.1:p.Val69Leu