Canonical Allele Identifier: CA322860666
Gene: CRYBB1 HGNC NCBI

Linked Data

dbSNP Id: rs202221808
gnomAD v2: 22-26995457-C-T
gnomAD v3: 22-26599493-C-T
gnomAD v4: 22-26599493-C-T
MyVariant Identifiers: chr22:g.26995457C>T (hg19) chr22:g.26599493C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.26599493C>T , CM000684.2:g.26599493C>T GRCh38
NC_000022.10:g.26995457C>T , CM000684.1:g.26995457C>T GRCh37
NC_000022.9:g.25325457C>T NCBI36
NG_009826.1:g.23535G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647684.1:c.756G>A MANE Select ENSP00000497249.1:p.Lys252=
ENST00000215939.2:c.756G>A ENSP00000215939.2:p.Lys252=
NM_001887.3:c.756G>A NP_001878.1:p.Lys252=
XM_011529899.1:c.756G>A XP_011528201.1:p.Lys252=
NM_001887.4:c.756G>A MANE Select NP_001878.1:p.Lys252=
XM_011529899.3:c.756G>A XP_011528201.1:p.Lys252=
Search 100 bp 5'
Search 100 bp 3'