Canonical Allele Identifier: CA512474383

Gene: CSTB

Linked Data

• ClinVar Variation Id: 3061122
• ClinVar RCV Id: RCV003982634
• MyVariant Identifiers: chr21:g.45194161G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43774280G>A , CM000683.2:g.43774280G>A	GRCh38
NC_000021.8:g.45194161G>A , CM000683.1:g.45194161G>A	GRCh37
NC_000021.7:g.44018589G>A	NCBI36
NG_011545.1:g.7099C>T , LRG_485:g.7099C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291568.7:c.219C>T MANE Select	ENSP00000291568.6:p.Leu73=
ENST00000480147.3:n.1989C>T
ENST00000639959.1:c.86C>T
ENST00000640406.1:c.*294C>T	ENSP00000492672.1:n.*294C>T
ENST00000675996.1:n.644C>T
ENST00000291568.5:c.219C>T	ENSP00000291568.5:p.Leu73=
ENST00000480147.1:n.583C>T
NM_000100.3:c.219C>T , LRG_485t1:c.219C>T	NP_000091.1:p.Leu73=
NM_000100.4:c.219C>T MANE Select	NP_000091.1:p.Leu73=