Canonical Allele Identifier: CA411027317
Gene: CRYBB1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.26995455C>A (hg19) chr22:g.26599491C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.26599491C>A , CM000684.2:g.26599491C>A GRCh38
NC_000022.10:g.26995455C>A , CM000684.1:g.26995455C>A GRCh37
NC_000022.9:g.25325455C>A NCBI36
NG_009826.1:g.23537G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647684.1:c.758G>T MANE Select ENSP00000497249.1:p.Ter253Leu
ENST00000215939.2:c.758G>T ENSP00000215939.2:p.Ter253Leu
NM_001887.3:c.758G>T NP_001878.1:p.Ter253Leu
XM_011529899.1:c.758G>T XP_011528201.1:p.Ter253Leu
NM_001887.4:c.758G>T MANE Select NP_001878.1:p.Ter253Leu
XM_011529899.3:c.758G>T XP_011528201.1:p.Ter253Leu
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