Canonical Allele Identifier: CA411027342
Gene: CRYBB1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.26995459T>C (hg19) chr22:g.26599495T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.26599495T>C , CM000684.2:g.26599495T>C GRCh38
NC_000022.10:g.26995459T>C , CM000684.1:g.26995459T>C GRCh37
NC_000022.9:g.25325459T>C NCBI36
NG_009826.1:g.23533A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000647684.1:c.754A>G MANE Select ENSP00000497249.1:p.Lys252Glu
ENST00000215939.2:c.754A>G ENSP00000215939.2:p.Lys252Glu
NM_001887.3:c.754A>G NP_001878.1:p.Lys252Glu
XM_011529899.1:c.754A>G XP_011528201.1:p.Lys252Glu
NM_001887.4:c.754A>G MANE Select NP_001878.1:p.Lys252Glu
XM_011529899.3:c.754A>G XP_011528201.1:p.Lys252Glu
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