Canonical Allele Identifier: CA6763999
Gene: CRY1 HGNC NCBI
gnomAD v2:
12:107386740 T / G
gnomAD v3:
12:106992962 T / G
gnomAD v4:
chr12-106992962-T-G
Joint Max Group AF 0.00877994 (MID)
Genomes Max Group AF 0.00471989 (AMR)
Exomes Max Group AF 0.00845084 (MID)
ClinVar RCV:
RCV000490555
RCV001849384
ClinVar Variation:
427574
dbSNP:
184039278
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.106992962T>G , CM000674.2:g.106992962T>G GRCh38
NC_000012.11:g.107386740T>G , CM000674.1:g.107386740T>G GRCh37
NC_000012.10:g.105910870T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000008527.10:c.1657+3A>C MANE Select ENSP00000008527.5:n.1657+3A>C
ENST00000008527.9:c.1657+3A>C ENSP00000008527.5:n.1657+3A>C
ENST00000549356.1:c.217+3A>C ENSP00000447738.1:n.217+3A>C
ENST00000552790.5:n.2239A>C
NM_004075.4:c.1657+3A>C NP_004066.1:n.1657+3A>C
XM_011537939.1:c.1573+3A>C XP_011536241.1:n.1573+3A>C
XM_017018832.2:c.1573+3A>C XP_016874321.1:n.1573+3A>C
XM_024448844.1:c.1660A>C XP_024304612.1:p.Lys554Gln
XM_024448845.1:c.1576A>C XP_024304613.1:p.Lys526Gln
NM_004075.5:c.1657+3A>C MANE Select NP_004066.1:n.1657+3A>C
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