Canonical Allele Identifier: CA322863527

Gene: CRYBB1 CRYBA4

Linked Data

• dbSNP Id: rs1000106932
• gnomAD v3: 22-26607990-C-T
• gnomAD v4: 22-26607990-C-T
• MyVariant Identifiers: chr22:g.27003954C>T (hg19) ; chr22:g.26607990C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.26607990C>T , CM000684.2:g.26607990C>T	GRCh38
NC_000022.10:g.27003954C>T , CM000684.1:g.27003954C>T	GRCh37
NC_000022.9:g.25333954C>T	NCBI36
NG_009826.1:g.15038G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647569.1:n.143G>A (CRYBB1)
ENST00000647684.1:c.331G>A (CRYBB1) MANE Select	ENSP00000497249.1:p.Gly111Arg
ENST00000215939.2:c.331G>A (CRYBB1)	ENSP00000215939.2:p.Gly111Arg
NM_001887.3:c.331G>A (CRYBB1)	NP_001878.1:p.Gly111Arg
XM_006724140.2:c.-70C>T (CRYBA4)	XP_006724203.1:n.-70C>T
XM_011529899.1:c.331G>A (CRYBB1)	XP_011528201.1:p.Gly111Arg
NM_001887.4:c.331G>A (CRYBB1) MANE Select	NP_001878.1:p.Gly111Arg
XM_006724140.3:c.-70C>T (CRYBA4)	XP_006724203.1:n.-70C>T
XM_011529899.3:c.331G>A (CRYBB1)	XP_011528201.1:p.Gly111Arg