Canonical Allele Identifier: CA411027372
Gene: CRYBB1 HGNC NCBI

Linked Data

dbSNP Id: rs148828054
gnomAD v2: 22-26995465-G-A
gnomAD v4: 22-26599501-G-A
MyVariant Identifiers: chr22:g.26995465G>A (hg19) chr22:g.26599501G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.26599501G>A , CM000684.2:g.26599501G>A GRCh38
NC_000022.10:g.26995465G>A , CM000684.1:g.26995465G>A GRCh37
NC_000022.9:g.25325465G>A NCBI36
NG_009826.1:g.23527C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647684.1:c.748C>T MANE Select ENSP00000497249.1:p.Pro250Ser
ENST00000215939.2:c.748C>T ENSP00000215939.2:p.Pro250Ser
NM_001887.3:c.748C>T NP_001878.1:p.Pro250Ser
XM_011529899.1:c.748C>T XP_011528201.1:p.Pro250Ser
NM_001887.4:c.748C>T MANE Select NP_001878.1:p.Pro250Ser
XM_011529899.3:c.748C>T XP_011528201.1:p.Pro250Ser
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