Canonical Allele Identifier: CA410408629

Gene: CSTB

Linked Data

• MyVariant Identifiers: chr21:g.45196104G>C (hg19) ; chr21:g.43776223G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43776223G>C , CM000683.2:g.43776223G>C	GRCh38
NC_000021.8:g.45196104G>C , CM000683.1:g.45196104G>C	GRCh37
NC_000021.7:g.44020532G>C	NCBI36
NG_011545.1:g.5156C>G , LRG_485:g.5156C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291568.7:c.47C>G MANE Select	ENSP00000291568.6:p.Thr16Ser
ENST00000480147.3:n.46C>G
ENST00000639959.1:c.16C>G
ENST00000640406.1:c.47C>G	ENSP00000492672.1:p.Thr16Ser
ENST00000675996.1:n.108C>G
ENST00000291568.5:c.47C>G	ENSP00000291568.5:p.Thr16Ser
ENST00000480147.1:n.84C>G
NM_000100.3:c.47C>G , LRG_485t1:c.47C>G	NP_000091.1:p.Thr16Ser
NM_000100.4:c.47C>G MANE Select	NP_000091.1:p.Thr16Ser