Canonical Allele Identifier: CA410407961

Gene: CSTB

Linked Data

• dbSNP Id: rs2083999421
• gnomAD v4: 21-43774300-G-T
• MyVariant Identifiers: chr21:g.45194181G>T (hg19) ; chr21:g.43774300G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43774300G>T , CM000683.2:g.43774300G>T	GRCh38
NC_000021.8:g.45194181G>T , CM000683.1:g.45194181G>T	GRCh37
NC_000021.7:g.44018609G>T	NCBI36
NG_011545.1:g.7079C>A , LRG_485:g.7079C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291568.7:c.199C>A MANE Select	ENSP00000291568.6:p.Leu67Met
ENST00000480147.3:n.1969C>A
ENST00000639959.1:c.66C>A
ENST00000640406.1:c.*274C>A	ENSP00000492672.1:n.*274C>A
ENST00000675996.1:n.624C>A
ENST00000291568.5:c.199C>A	ENSP00000291568.5:p.Leu67Met
ENST00000480147.1:n.563C>A
NM_000100.3:c.199C>A , LRG_485t1:c.199C>A	NP_000091.1:p.Leu67Met
NM_000100.4:c.199C>A MANE Select	NP_000091.1:p.Leu67Met