Canonical Allele Identifier: CA411035211

Gene: CRYBB1 CRYBA4

Linked Data

• ClinVar Variation Id: 3065113
• ClinVar RCV Id: RCV003990190
• dbSNP Id: rs1929354169
• MyVariant Identifiers: chr22:g.27012282A>T (hg19) ; chr22:g.26616318A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.26616318A>T , CM000684.2:g.26616318A>T	GRCh38
NC_000022.10:g.27012282A>T , CM000684.1:g.27012282A>T	GRCh37
NC_000022.9:g.25342282A>T	NCBI36
NG_009826.1:g.6710T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647684.1:c.2T>A (CRYBB1) MANE Select	ENSP00000497249.1:p.Met1Lys
ENST00000215939.2:c.2T>A (CRYBB1)	ENSP00000215939.2:p.Met1Lys
NM_001887.3:c.2T>A (CRYBB1)	NP_001878.1:p.Met1Lys
XM_006724140.2:c.4-6267A>T (CRYBA4)	XP_006724203.1:n.4-6267A>T
XM_011529898.1:c.24-5590A>T (CRYBA4)	XP_011528200.1:n.24-5590A>T
XM_011529899.1:c.2T>A (CRYBB1)	XP_011528201.1:p.Met1Lys
NM_001887.4:c.2T>A (CRYBB1) MANE Select	NP_001878.1:p.Met1Lys
XM_006724140.3:c.4-6267A>T (CRYBA4)	XP_006724203.1:n.4-6267A>T
XM_011529899.3:c.2T>A (CRYBB1)	XP_011528201.1:p.Met1Lys