Canonical Allele Identifier: CA411035119
Gene: CRYBB1 HGNC NCBI
CRYBA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.27012268T>C (hg19) chr22:g.26616304T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.26616304T>C , CM000684.2:g.26616304T>C GRCh38
NC_000022.10:g.27012268T>C , CM000684.1:g.27012268T>C GRCh37
NC_000022.9:g.25342268T>C NCBI36
NG_009826.1:g.6724A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647684.1:c.16A>G (CRYBB1) MANE Select ENSP00000497249.1:p.Lys6Glu
ENST00000215939.2:c.16A>G (CRYBB1) ENSP00000215939.2:p.Lys6Glu
NM_001887.3:c.16A>G (CRYBB1) NP_001878.1:p.Lys6Glu
XM_006724140.2:c.4-6281T>C (CRYBA4) XP_006724203.1:n.4-6281T>C
XM_011529898.1:c.24-5604T>C (CRYBA4) XP_011528200.1:n.24-5604T>C
XM_011529899.1:c.16A>G (CRYBB1) XP_011528201.1:p.Lys6Glu
NM_001887.4:c.16A>G (CRYBB1) MANE Select NP_001878.1:p.Lys6Glu
XM_006724140.3:c.4-6281T>C (CRYBA4) XP_006724203.1:n.4-6281T>C
XM_011529899.3:c.16A>G (CRYBB1) XP_011528201.1:p.Lys6Glu
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