Canonical Allele Identifier: CA411034672

Gene: CRYBB1 CRYBA4

Linked Data

• dbSNP Id: rs1929349454
• gnomAD v3: 22-26616244-C-G
• gnomAD v4: 22-26616244-C-G
• MyVariant Identifiers: chr22:g.27012208C>G (hg19) ; chr22:g.26616244C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.26616244C>G , CM000684.2:g.26616244C>G	GRCh38
NC_000022.10:g.27012208C>G , CM000684.1:g.27012208C>G	GRCh37
NC_000022.9:g.25342208C>G	NCBI36
NG_009826.1:g.6784G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647684.1:c.76G>C (CRYBB1) MANE Select	ENSP00000497249.1:p.Ala26Pro
ENST00000215939.2:c.76G>C (CRYBB1)	ENSP00000215939.2:p.Ala26Pro
NM_001887.3:c.76G>C (CRYBB1)	NP_001878.1:p.Ala26Pro
XM_006724140.2:c.4-6341C>G (CRYBA4)	XP_006724203.1:n.4-6341C>G
XM_011529898.1:c.24-5664C>G (CRYBA4)	XP_011528200.1:n.24-5664C>G
XM_011529899.1:c.76G>C (CRYBB1)	XP_011528201.1:p.Ala26Pro
NM_001887.4:c.76G>C (CRYBB1) MANE Select	NP_001878.1:p.Ala26Pro
XM_006724140.3:c.4-6341C>G (CRYBA4)	XP_006724203.1:n.4-6341C>G
XM_011529899.3:c.76G>C (CRYBB1)	XP_011528201.1:p.Ala26Pro