Canonical Allele Identifier: CA411027358
Gene: CRYBB1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.26995462G>C (hg19) chr22:g.26599498G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.26599498G>C , CM000684.2:g.26599498G>C GRCh38
NC_000022.10:g.26995462G>C , CM000684.1:g.26995462G>C GRCh37
NC_000022.9:g.25325462G>C NCBI36
NG_009826.1:g.23530C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647684.1:c.751C>G MANE Select ENSP00000497249.1:p.Pro251Ala
ENST00000215939.2:c.751C>G ENSP00000215939.2:p.Pro251Ala
NM_001887.3:c.751C>G NP_001878.1:p.Pro251Ala
XM_011529899.1:c.751C>G XP_011528201.1:p.Pro251Ala
NM_001887.4:c.751C>G MANE Select NP_001878.1:p.Pro251Ala
XM_011529899.3:c.751C>G XP_011528201.1:p.Pro251Ala
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