Canonical Allele Identifier: CA15373333
Gene: CERT1 HGNC NCBI
HMGCR HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.75362479A>G
GRCh37 chr5:g.74658304A>G
gnomAD v2:
5:74658304 A / G
gnomAD v3:
5:75362479 A / G
gnomAD v4:
chr5-75362479-A-G
Joint Max Group AF 0.16067399 (SAS)
Genomes Max Group AF 0.16067399 (SAS)
ClinVar RCV:
RCV002463821
ClinVar Variation:
1801493
dbSNP:
4629571
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.75362479A>G , CM000667.2:g.75362479A>G GRCh38
NC_000005.9:g.74658304A>G , CM000667.1:g.74658304A>G GRCh37
NC_000005.8:g.74694060A>G NCBI36
NG_011449.1:g.30312A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000644912.1:c.1670-5467T>C (CERT1) ENSP00000495172.1:n.1670-5467T>C
ENST00000646172.1:c.1203-5467T>C (CERT1) ENSP00000494969.1:n.1203-5467T>C
ENST00000679456.1:n.5641A>G (HMGCR)
ENST00000680940.1:c.*2137A>G (HMGCR) ENSP00000505561.1:n.*2137A>G
ENST00000681271.1:c.*2137A>G (HMGCR) ENSP00000505805.1:n.*2137A>G
ENST00000681410.1:c.*2137A>G (HMGCR) ENSP00000506232.1:n.*2137A>G
ENST00000681567.1:c.*5353A>G (HMGCR) ENSP00000506708.1:n.*5353A>G
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