Canonical Allele Identifier: CA3943705
Gene: CRYBG1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.106539495A>C
GRCh37 chr6:g.106987370A>C
Revel Score:
ENST00000369066 0.184
gnomAD v2:
6:106987370 A / C
gnomAD v3:
6:106539495 A / C
gnomAD v4:
chr6-106539495-A-C
Joint Max Group AF 0.95479021 (SAS)
Genomes Max Group AF 0.94161655 (SAS)
Exomes Max Group AF 0.95438437 (SAS)
dbSNP:
783396
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.106539495A>C , CM000668.2:g.106539495A>C GRCh38
NC_000006.11:g.106987370A>C , CM000668.1:g.106987370A>C GRCh37
NC_000006.10:g.107094063A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000633556.3:c.4811A>C MANE Select ENSP00000488010.2:p.Glu1604Ala
ENST00000369066.7:c.3587A>C ENSP00000358062.3:p.Glu1196Ala
ENST00000633556.1:c.4811A>C ENSP00000488010.1:p.Glu1604Ala
NM_001624.3:c.3587A>C NP_001615.2:p.Glu1196Ala
XM_005266839.2:c.4811A>C XP_005266896.1:p.Glu1604Ala
XM_005266839.3:c.4811A>C XP_005266896.1:p.Glu1604Ala
XM_017010333.1:c.3587A>C XP_016865822.1:p.Glu1196Ala
NM_001371242.2:c.4811A>C MANE Select NP_001358171.1:p.Glu1604Ala
NM_001624.4:c.3587A>C NP_001615.2:p.Glu1196Ala
Search 100 bp 5'
Search 100 bp 3'