Canonical Allele Identifier: CA322866692

Gene: CRYBB1 CRYBA4

Linked Data

• dbSNP Id: rs977545156
• gnomAD v3: 22-26616258-G-C
• gnomAD v4: 22-26616258-G-C
• MyVariant Identifiers: chr22:g.27012222G>C (hg19) ; chr22:g.26616258G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.26616258G>C , CM000684.2:g.26616258G>C	GRCh38
NC_000022.10:g.27012222G>C , CM000684.1:g.27012222G>C	GRCh37
NC_000022.9:g.25342222G>C	NCBI36
NG_009826.1:g.6770C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647684.1:c.62C>G (CRYBB1) MANE Select	ENSP00000497249.1:p.Thr21Ser
ENST00000215939.2:c.62C>G (CRYBB1)	ENSP00000215939.2:p.Thr21Ser
NM_001887.3:c.62C>G (CRYBB1)	NP_001878.1:p.Thr21Ser
XM_006724140.2:c.4-6327G>C (CRYBA4)	XP_006724203.1:n.4-6327G>C
XM_011529898.1:c.24-5650G>C (CRYBA4)	XP_011528200.1:n.24-5650G>C
XM_011529899.1:c.62C>G (CRYBB1)	XP_011528201.1:p.Thr21Ser
NM_001887.4:c.62C>G (CRYBB1) MANE Select	NP_001878.1:p.Thr21Ser
XM_006724140.3:c.4-6327G>C (CRYBA4)	XP_006724203.1:n.4-6327G>C
XM_011529899.3:c.62C>G (CRYBB1)	XP_011528201.1:p.Thr21Ser