Canonical Allele Identifier: CA638098018

Gene: CSTB

Linked Data

• dbSNP Id: rs1216573617
• gnomAD v2: 21-45196057-G-A
• gnomAD v4: 21-43776176-G-A
• MyVariant Identifiers: chr21:g.45196057G>A (hg19) ; chr21:g.43776176G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43776176G>A , CM000683.2:g.43776176G>A	GRCh38
NC_000021.8:g.45196057G>A , CM000683.1:g.45196057G>A	GRCh37
NC_000021.7:g.44020485G>A	NCBI36
NG_011545.1:g.5203C>T , LRG_485:g.5203C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291568.7:c.66+28C>T MANE Select	ENSP00000291568.6:n.66+28C>T
ENST00000480147.3:n.93C>T
ENST00000639959.1:c.35+28C>T
ENST00000640406.1:c.66+28C>T	ENSP00000492672.1:n.66+28C>T
ENST00000675996.1:n.155C>T
ENST00000291568.5:c.66+28C>T	ENSP00000291568.5:n.66+28C>T
ENST00000480147.1:n.103+28C>T
NM_000100.3:c.66+28C>T , LRG_485t1:c.66+28C>T	NP_000091.1:n.66+28C>T
NM_000100.4:c.66+28C>T MANE Select	NP_000091.1:n.66+28C>T