Canonical Allele Identifier: CA181184
Gene: CRYAB HGNC NCBI

Linked Data

ClinVar Variation Id: 178013
dbSNP Id: rs149787233

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.111911609G>A , CM000673.2:g.111911609G>A GRCh38
NC_000011.9:g.111782333G>A , CM000673.1:g.111782333G>A GRCh37
NC_000011.8:g.111287543G>A NCBI36
NG_009824.2:g.17114C>T
NG_033080.1:g.3874G>A
NG_009824.3:g.17114C>T
NG_033080.2:g.3874G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000526180.6:c.116C>T ENSP00000436051.1:p.Pro39Leu
ENST00000527899.6:c.116C>T ENSP00000436089.2:p.Pro39Leu
ENST00000533475.6:c.116C>T ENSP00000433560.1:p.Pro39Leu
ENST00000533879.2:c.116C>T ENSP00000435931.2:p.Pro39Leu
ENST00000533971.2:c.116C>T ENSP00000434269.1:p.Pro39Leu
ENST00000616970.5:c.116C>T ENSP00000483554.1:p.Pro39Leu
ENST00000650687.2:c.116C>T MANE Select ENSP00000499082.1:p.Pro39Leu
ENST00000651164.1:c.116C>T ENSP00000498735.1:p.Pro39Leu
ENST00000652223.1:n.428C>T
ENST00000652606.1:n.360C>T
ENST00000227251.7:c.116C>T ENSP00000227251.3:p.Pro39Leu
ENST00000526180.5:c.116C>T ENSP00000436051.1:p.Pro39Leu
ENST00000527899.5:c.116C>T ENSP00000436089.1:p.Pro39Leu
ENST00000527950.5:c.116C>T ENSP00000437149.1:p.Pro39Leu
ENST00000528628.5:c.116C>T ENSP00000432182.1:p.Pro39Leu
ENST00000529647.5:c.116C>T ENSP00000431754.1:p.Pro39Leu
ENST00000531198.5:c.116C>T ENSP00000434247.1:p.Pro39Leu
ENST00000533475.5:c.116C>T ENSP00000433560.1:p.Pro39Leu
ENST00000533879.1:c.116C>T ENSP00000435931.1:p.Pro39Leu
ENST00000533971.1:c.116C>T ENSP00000434269.1:p.Pro39Leu
ENST00000616970.4:c.116C>T ENSP00000483554.1:p.Pro39Leu
NM_001289807.1:c.116C>T NP_001276736.1:p.Pro39Leu
NM_001289808.1:c.116C>T NP_001276737.1:p.Pro39Leu
NM_001885.2:c.116C>T NP_001876.1:p.Pro39Leu
XM_011542608.1:c.116C>T XP_011540910.1:p.Pro39Leu
NM_001289808.2:c.116C>T MANE Select NP_001276737.1:p.Pro39Leu
NM_001368245.1:c.116C>T NP_001355174.1:p.Pro39Leu
NM_001885.3:c.116C>T NP_001876.1:p.Pro39Leu