Canonical Allele Identifier: CA411027322
Gene: CRYBB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 427748
ClinVar RCV Id: RCV000490649
dbSNP Id: rs1114167432
gnomAD v4: 22-26599492-A-G
MyVariant Identifiers: chr22:g.26995456A>G (hg19) chr22:g.26599492A>G (hg38)
PubMed: PMID:16110300
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.26599492A>G , CM000684.2:g.26599492A>G GRCh38
NC_000022.10:g.26995456A>G , CM000684.1:g.26995456A>G GRCh37
NC_000022.9:g.25325456A>G NCBI36
NG_009826.1:g.23536T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647684.1:c.757T>C MANE Select ENSP00000497249.1:p.Ter253Arg
ENST00000215939.2:c.757T>C ENSP00000215939.2:p.Ter253Arg
NM_001887.3:c.757T>C NP_001878.1:p.Ter253Arg
XM_011529899.1:c.757T>C XP_011528201.1:p.Ter253Arg
NM_001887.4:c.757T>C MANE Select NP_001878.1:p.Ter253Arg
XM_011529899.3:c.757T>C XP_011528201.1:p.Ter253Arg
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