Canonical Allele Identifier: CA2391345996

Gene: CSTB

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43774279G= , CM000683.2:g.43774279G=	GRCh38
NC_000021.8:g.45194160G= , CM000683.1:g.45194160G=	GRCh37
NC_000021.7:g.44018588G=	NCBI36
NG_011545.1:g.7100C= , LRG_485:g.7100C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291568.7:c.220C= MANE Select	ENSP00000291568.6:p.Pro74=
ENST00000480147.3:n.1990C=
ENST00000639959.1:c.87C=
ENST00000640406.1:c.*295C=	ENSP00000492672.1:n.*295C=
ENST00000675996.1:n.645C=
ENST00000291568.5:c.220C=	ENSP00000291568.5:p.Pro74=
ENST00000480147.1:n.584C=
NM_000100.3:c.220C= , LRG_485t1:c.220C=	NP_000091.1:p.Pro74=
NM_000100.4:c.220C= MANE Select	NP_000091.1:p.Pro74=