Canonical Allele Identifier: CA10165350
Gene: CRYBB1 HGNC NCBI

Linked Data

dbSNP Id: rs765092793
ExAC: 22:26995458 T / C
gnomAD v2: 22-26995458-T-C
gnomAD v3: 22-26599494-T-C
gnomAD v4: 22-26599494-T-C
MyVariant Identifiers: chr22:g.26995458T>C (hg19) chr22:g.26599494T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.26599494T>C , CM000684.2:g.26599494T>C GRCh38
NC_000022.10:g.26995458T>C , CM000684.1:g.26995458T>C GRCh37
NC_000022.9:g.25325458T>C NCBI36
NG_009826.1:g.23534A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000647684.1:c.755A>G MANE Select ENSP00000497249.1:p.Lys252Arg
ENST00000215939.2:c.755A>G ENSP00000215939.2:p.Lys252Arg
NM_001887.3:c.755A>G NP_001878.1:p.Lys252Arg
XM_011529899.1:c.755A>G XP_011528201.1:p.Lys252Arg
NM_001887.4:c.755A>G MANE Select NP_001878.1:p.Lys252Arg
XM_011529899.3:c.755A>G XP_011528201.1:p.Lys252Arg
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