Canonical Allele Identifier: CA411027349
Gene: CRYBB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.26599497G>A , CM000684.2:g.26599497G>A GRCh38
NC_000022.10:g.26995461G>A , CM000684.1:g.26995461G>A GRCh37
NC_000022.9:g.25325461G>A NCBI36
NG_009826.1:g.23531C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000647684.1:c.752C>T MANE Select ENSP00000497249.1:p.Pro251Leu
ENST00000215939.2:c.752C>T ENSP00000215939.2:p.Pro251Leu
NM_001887.3:c.752C>T NP_001878.1:p.Pro251Leu
XM_011529899.1:c.752C>T XP_011528201.1:p.Pro251Leu
NM_001887.4:c.752C>T MANE Select NP_001878.1:p.Pro251Leu
XM_011529899.3:c.752C>T XP_011528201.1:p.Pro251Leu