Canonical Allele Identifier: CA411035127
Gene: CRYBB1 HGNC NCBI
CRYBA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 900138
ClinVar RCV Id: RCV001145133
dbSNP Id: rs1929353737

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.26616307C>T , CM000684.2:g.26616307C>T GRCh38
NC_000022.10:g.27012271C>T , CM000684.1:g.27012271C>T GRCh37
NC_000022.9:g.25342271C>T NCBI36
NG_009826.1:g.6721G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647684.1:c.13G>A (CRYBB1) MANE Select ENSP00000497249.1:p.Ala5Thr
ENST00000215939.2:c.13G>A (CRYBB1) ENSP00000215939.2:p.Ala5Thr
NM_001887.3:c.13G>A (CRYBB1) NP_001878.1:p.Ala5Thr
XM_006724140.2:c.4-6278C>T (CRYBA4) XP_006724203.1:n.4-6278C>T
XM_011529898.1:c.24-5601C>T (CRYBA4) XP_011528200.1:n.24-5601C>T
XM_011529899.1:c.13G>A (CRYBB1) XP_011528201.1:p.Ala5Thr
NM_001887.4:c.13G>A (CRYBB1) MANE Select NP_001878.1:p.Ala5Thr
XM_006724140.3:c.4-6278C>T (CRYBA4) XP_006724203.1:n.4-6278C>T
XM_011529899.3:c.13G>A (CRYBB1) XP_011528201.1:p.Ala5Thr