Canonical Allele Identifier: CA410407856

Gene: CSTB

Linked Data

• MyVariant Identifiers: chr21:g.45194152T>G (hg19) ; chr21:g.43774271T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43774271T>G , CM000683.2:g.43774271T>G	GRCh38
NC_000021.8:g.45194152T>G , CM000683.1:g.45194152T>G	GRCh37
NC_000021.7:g.44018580T>G	NCBI36
NG_011545.1:g.7108A>C , LRG_485:g.7108A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291568.7:c.228A>C MANE Select	ENSP00000291568.6:p.Glu76Asp
ENST00000480147.3:n.1998A>C
ENST00000639959.1:c.95A>C
ENST00000640406.1:c.*303A>C	ENSP00000492672.1:n.*303A>C
ENST00000675996.1:n.653A>C
ENST00000291568.5:c.228A>C	ENSP00000291568.5:p.Glu76Asp
ENST00000480147.1:n.592A>C
NM_000100.3:c.228A>C , LRG_485t1:c.228A>C	NP_000091.1:p.Glu76Asp
NM_000100.4:c.228A>C MANE Select	NP_000091.1:p.Glu76Asp