Canonical Allele Identifier: CA411027330
Gene: CRYBB1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.26995457C>G (hg19) chr22:g.26599493C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.26599493C>G , CM000684.2:g.26599493C>G GRCh38
NC_000022.10:g.26995457C>G , CM000684.1:g.26995457C>G GRCh37
NC_000022.9:g.25325457C>G NCBI36
NG_009826.1:g.23535G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000647684.1:c.756G>C MANE Select ENSP00000497249.1:p.Lys252Asn
ENST00000215939.2:c.756G>C ENSP00000215939.2:p.Lys252Asn
NM_001887.3:c.756G>C NP_001878.1:p.Lys252Asn
XM_011529899.1:c.756G>C XP_011528201.1:p.Lys252Asn
NM_001887.4:c.756G>C MANE Select NP_001878.1:p.Lys252Asn
XM_011529899.3:c.756G>C XP_011528201.1:p.Lys252Asn
Search 100 bp 5'
Search 100 bp 3'