Canonical Allele Identifier: CA360129236

Gene: HMGCR CERT1

Linked Data

• ClinVar Variation Id: 2506433
• ClinVar RCV Id: RCV003236607
• gnomAD v4: 5-75359474-A-G
• MyVariant Identifiers: chr5:g.74655299A>G (hg19) ; chr5:g.75359474A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75359474A>G , CM000667.2:g.75359474A>G	GRCh38
NC_000005.9:g.74655299A>G , CM000667.1:g.74655299A>G	GRCh37
NC_000005.8:g.74691055A>G	NCBI36
NG_011449.1:g.27307A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287936.9:c.2375A>G (HMGCR) MANE Select	ENSP00000287936.4:p.Tyr792Cys
ENST00000644912.1:c.1670-2462T>C (CERT1)	ENSP00000495172.1:n.1670-2462T>C
ENST00000646172.1:c.1203-2462T>C (CERT1)	ENSP00000494969.1:n.1203-2462T>C
ENST00000679456.1:n.3212A>G (HMGCR)
ENST00000680160.1:c.2375A>G (HMGCR)	ENSP00000505315.1:p.Tyr792Cys
ENST00000680940.1:c.2375A>G (HMGCR)	ENSP00000505561.1:p.Tyr792Cys
ENST00000681271.1:c.2375A>G (HMGCR)	ENSP00000505805.1:p.Tyr792Cys
ENST00000681410.1:c.2375A>G (HMGCR)	ENSP00000506232.1:p.Tyr792Cys
ENST00000681567.1:c.*2924A>G (HMGCR)	ENSP00000506708.1:n.*2924A>G
ENST00000287936.8:c.2375A>G (HMGCR)	ENSP00000287936.4:p.Tyr792Cys
ENST00000343975.9:c.2216A>G (HMGCR)	ENSP00000340816.5:p.Tyr739Cys
ENST00000509085.5:c.287+164A>G (HMGCR)
ENST00000511206.5:c.2375A>G (HMGCR)	ENSP00000426745.1:p.Tyr792Cys
ENST00000511986.1:c.139-511A>G (HMGCR)	ENSP00000420871.1:n.139-511A>G
ENST00000514315.2:n.316A>G (HMGCR)
NM_000859.2:c.2375A>G (HMGCR)	NP_000850.1:p.Tyr792Cys
NM_001130996.1:c.2216A>G (HMGCR)	NP_001124468.1:p.Tyr739Cys
XM_011543357.1:c.2435A>G (HMGCR)	XP_011541659.1:p.Tyr812Cys
XM_011543358.1:c.2375A>G (HMGCR)	XP_011541660.1:p.Tyr792Cys
XM_011543359.1:c.2276A>G (HMGCR)	XP_011541661.1:p.Tyr759Cys
NM_001364187.1:c.2375A>G (HMGCR)	NP_001351116.1:p.Tyr792Cys
NM_000859.3:c.2375A>G (HMGCR) MANE Select	NP_000850.1:p.Tyr792Cys
NM_001130996.2:c.2216A>G (HMGCR)	NP_001124468.1:p.Tyr739Cys