Canonical Allele Identifier: CA411034408

Gene: CRYBB1 CRYBA4

Linked Data

• COSMIC: COSM1033012
• MyVariant Identifiers: chr22:g.27012151G>A (hg19) ; chr22:g.26616187G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.26616187G>A , CM000684.2:g.26616187G>A	GRCh38
NC_000022.10:g.27012151G>A , CM000684.1:g.27012151G>A	GRCh37
NC_000022.9:g.25342151G>A	NCBI36
NG_009826.1:g.6841C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647684.1:c.133C>T (CRYBB1) MANE Select	ENSP00000497249.1:p.Pro45Ser
ENST00000215939.2:c.133C>T (CRYBB1)	ENSP00000215939.2:p.Pro45Ser
NM_001887.3:c.133C>T (CRYBB1)	NP_001878.1:p.Pro45Ser
XM_006724140.2:c.4-6398G>A (CRYBA4)	XP_006724203.1:n.4-6398G>A
XM_011529898.1:c.24-5721G>A (CRYBA4)	XP_011528200.1:n.24-5721G>A
XM_011529899.1:c.133C>T (CRYBB1)	XP_011528201.1:p.Pro45Ser
NM_001887.4:c.133C>T (CRYBB1) MANE Select	NP_001878.1:p.Pro45Ser
XM_006724140.3:c.4-6398G>A (CRYBA4)	XP_006724203.1:n.4-6398G>A
XM_011529899.3:c.133C>T (CRYBB1)	XP_011528201.1:p.Pro45Ser