Canonical Allele Identifier: CA512474446

Gene: CSTB

Linked Data

• MyVariant Identifiers: chr21:g.45194176T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43774295T>A , CM000683.2:g.43774295T>A	GRCh38
NC_000021.8:g.45194176T>A , CM000683.1:g.45194176T>A	GRCh37
NC_000021.7:g.44018604T>A	NCBI36
NG_011545.1:g.7084A>T , LRG_485:g.7084A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291568.7:c.204A>T MANE Select	ENSP00000291568.6:p.Arg68=
ENST00000480147.3:n.1974A>T
ENST00000639959.1:c.71A>T
ENST00000640406.1:c.*279A>T	ENSP00000492672.1:n.*279A>T
ENST00000675996.1:n.629A>T
ENST00000291568.5:c.204A>T	ENSP00000291568.5:p.Arg68=
ENST00000480147.1:n.568A>T
NM_000100.3:c.204A>T , LRG_485t1:c.204A>T	NP_000091.1:p.Arg68=
NM_000100.4:c.204A>T MANE Select	NP_000091.1:p.Arg68=