Canonical Allele Identifier: CA411031117

Gene: CRYBB1 CRYBA4

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.26608016A>G , CM000684.2:g.26608016A>G	GRCh38
NC_000022.10:g.27003980A>G , CM000684.1:g.27003980A>G	GRCh37
NC_000022.9:g.25333980A>G	NCBI36
NG_009826.1:g.15012T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647569.1:n.117T>C (CRYBB1)
ENST00000647684.1:c.305T>C (CRYBB1) MANE Select	ENSP00000497249.1:p.Val102Ala
ENST00000215939.2:c.305T>C (CRYBB1)	ENSP00000215939.2:p.Val102Ala
NM_001887.3:c.305T>C (CRYBB1)	NP_001878.1:p.Val102Ala
XM_006724140.2:c.-44A>G (CRYBA4)	XP_006724203.1:n.-44A>G
XM_011529898.1:c.-24A>G (CRYBA4)	XP_011528200.1:n.-24A>G
XM_011529899.1:c.305T>C (CRYBB1)	XP_011528201.1:p.Val102Ala
NM_001887.4:c.305T>C (CRYBB1) MANE Select	NP_001878.1:p.Val102Ala
XM_006724140.3:c.-44A>G (CRYBA4)	XP_006724203.1:n.-44A>G
XM_011529899.3:c.305T>C (CRYBB1)	XP_011528201.1:p.Val102Ala