Canonical Allele Identifier: CA512473602

Gene: CSTB

Linked Data

• MyVariant Identifiers: chr21:g.45194110G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43774229G>T , CM000683.2:g.43774229G>T	GRCh38
NC_000021.8:g.45194110G>T , CM000683.1:g.45194110G>T	GRCh37
NC_000021.7:g.44018538G>T	NCBI36
NG_011545.1:g.7150C>A , LRG_485:g.7150C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291568.7:c.270C>A MANE Select	ENSP00000291568.6:p.Ala90=
ENST00000480147.3:n.2040C>A
ENST00000639959.1:c.137C>A
ENST00000640406.1:c.*345C>A	ENSP00000492672.1:n.*345C>A
ENST00000675996.1:n.695C>A
ENST00000291568.5:c.270C>A	ENSP00000291568.5:p.Ala90=
ENST00000480147.1:n.634C>A
NM_000100.3:c.270C>A , LRG_485t1:c.270C>A	NP_000091.1:p.Ala90=
NM_000100.4:c.270C>A MANE Select	NP_000091.1:p.Ala90=