Canonical Allele Identifier: CA411034954

Gene: CRYBB1 CRYBA4

Linked Data

• dbSNP Id: rs747901309
• gnomAD v2: 22-27012247-C-A
• gnomAD v4: 22-26616283-C-A
• MyVariant Identifiers: chr22:g.27012247C>A (hg19) ; chr22:g.26616283C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.26616283C>A , CM000684.2:g.26616283C>A	GRCh38
NC_000022.10:g.27012247C>A , CM000684.1:g.27012247C>A	GRCh37
NC_000022.9:g.25342247C>A	NCBI36
NG_009826.1:g.6745G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647684.1:c.37G>T (CRYBB1) MANE Select	ENSP00000497249.1:p.Val13Leu
ENST00000215939.2:c.37G>T (CRYBB1)	ENSP00000215939.2:p.Val13Leu
NM_001887.3:c.37G>T (CRYBB1)	NP_001878.1:p.Val13Leu
XM_006724140.2:c.4-6302C>A (CRYBA4)	XP_006724203.1:n.4-6302C>A
XM_011529898.1:c.24-5625C>A (CRYBA4)	XP_011528200.1:n.24-5625C>A
XM_011529899.1:c.37G>T (CRYBB1)	XP_011528201.1:p.Val13Leu
NM_001887.4:c.37G>T (CRYBB1) MANE Select	NP_001878.1:p.Val13Leu
XM_006724140.3:c.4-6302C>A (CRYBA4)	XP_006724203.1:n.4-6302C>A
XM_011529899.3:c.37G>T (CRYBB1)	XP_011528201.1:p.Val13Leu