Canonical Allele Identifier: CA410407901

Gene: CSTB

Linked Data

• MyVariant Identifiers: chr21:g.45194163G>A (hg19) ; chr21:g.43774282G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43774282G>A , CM000683.2:g.43774282G>A	GRCh38
NC_000021.8:g.45194163G>A , CM000683.1:g.45194163G>A	GRCh37
NC_000021.7:g.44018591G>A	NCBI36
NG_011545.1:g.7097C>T , LRG_485:g.7097C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291568.7:c.217C>T MANE Select	ENSP00000291568.6:p.Leu73Phe
ENST00000480147.3:n.1987C>T
ENST00000639959.1:c.84C>T
ENST00000640406.1:c.*292C>T	ENSP00000492672.1:n.*292C>T
ENST00000675996.1:n.642C>T
ENST00000291568.5:c.217C>T	ENSP00000291568.5:p.Leu73Phe
ENST00000480147.1:n.581C>T
NM_000100.3:c.217C>T , LRG_485t1:c.217C>T	NP_000091.1:p.Leu73Phe
NM_000100.4:c.217C>T MANE Select	NP_000091.1:p.Leu73Phe