Canonical Allele Identifier: CA2399267246
Gene: CRYBB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.26599499G= , CM000684.2:g.26599499G= GRCh38
NC_000022.10:g.26995463G= , CM000684.1:g.26995463G= GRCh37
NC_000022.9:g.25325463G= NCBI36
NG_009826.1:g.23529C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000647684.1:c.750C= MANE Select ENSP00000497249.1:p.Pro250=
ENST00000215939.2:c.750C= ENSP00000215939.2:p.Pro250=
NM_001887.3:c.750C= NP_001878.1:p.Pro250=
XM_011529899.1:c.750C= XP_011528201.1:p.Pro250=
NM_001887.4:c.750C= MANE Select NP_001878.1:p.Pro250=
XM_011529899.3:c.750C= XP_011528201.1:p.Pro250=