Canonical Allele Identifier: CA10165532

Gene: CRYBB1 CRYBA4

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.26612097G>A , CM000684.2:g.26612097G>A	GRCh38
NC_000022.10:g.27008061G>A , CM000684.1:g.27008061G>A	GRCh37
NC_000022.9:g.25338061G>A	NCBI36
NG_009826.1:g.10931C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001887.4:c.274C>T (CRYBB1) MANE Select	NP_001878.1:p.Arg92Cys
ENST00000647684.1:c.274C>T (CRYBB1) MANE Select	ENSP00000497249.1:p.Arg92Cys
NM_001887.3:c.274C>T (CRYBB1)	NP_001878.1:p.Arg92Cys
ENST00000215939.2:c.274C>T (CRYBB1)	ENSP00000215939.2:p.Arg92Cys
XM_006724140.2:c.3+4035G>A (CRYBA4)	XP_006724203.1:n.3+4035G>A
XM_006724140.3:c.3+4035G>A (CRYBA4)	XP_006724203.1:n.3+4035G>A
XM_011529898.1:c.23+4035G>A (CRYBA4)	XP_011528200.1:n.23+4035G>A
XM_011529899.1:c.274C>T (CRYBB1)	XP_011528201.1:p.Arg92Cys
XM_011529899.3:c.274C>T (CRYBB1)	XP_011528201.1:p.Arg92Cys