Canonical Allele Identifier: CA411030607
Gene: CRYBB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.26607897T>C , CM000684.2:g.26607897T>C GRCh38
NC_000022.10:g.27003861T>C , CM000684.1:g.27003861T>C GRCh37
NC_000022.9:g.25333861T>C NCBI36
NG_009826.1:g.15131A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647569.1:n.236A>G
ENST00000647684.1:c.424A>G MANE Select ENSP00000497249.1:p.Ile142Val
ENST00000215939.2:c.424A>G ENSP00000215939.2:p.Ile142Val
NM_001887.3:c.424A>G NP_001878.1:p.Ile142Val
XM_011529899.1:c.424A>G XP_011528201.1:p.Ile142Val
NM_001887.4:c.424A>G MANE Select NP_001878.1:p.Ile142Val
XM_011529899.3:c.424A>G XP_011528201.1:p.Ile142Val