Canonical Allele Identifier: CA411035102
Gene: CRYBB1 HGNC NCBI
CRYBA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.27012266C>A (hg19) chr22:g.26616302C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.26616302C>A , CM000684.2:g.26616302C>A GRCh38
NC_000022.10:g.27012266C>A , CM000684.1:g.27012266C>A GRCh37
NC_000022.9:g.25342266C>A NCBI36
NG_009826.1:g.6726G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647684.1:c.18G>T (CRYBB1) MANE Select ENSP00000497249.1:p.Lys6Asn
ENST00000215939.2:c.18G>T (CRYBB1) ENSP00000215939.2:p.Lys6Asn
NM_001887.3:c.18G>T (CRYBB1) NP_001878.1:p.Lys6Asn
XM_006724140.2:c.4-6283C>A (CRYBA4) XP_006724203.1:n.4-6283C>A
XM_011529898.1:c.24-5606C>A (CRYBA4) XP_011528200.1:n.24-5606C>A
XM_011529899.1:c.18G>T (CRYBB1) XP_011528201.1:p.Lys6Asn
NM_001887.4:c.18G>T (CRYBB1) MANE Select NP_001878.1:p.Lys6Asn
XM_006724140.3:c.4-6283C>A (CRYBA4) XP_006724203.1:n.4-6283C>A
XM_011529899.3:c.18G>T (CRYBB1) XP_011528201.1:p.Lys6Asn
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