Canonical Allele Identifier: CA360129285

Gene: HMGCR CERT1

Linked Data

• MyVariant Identifiers: chr5:g.74655320C>A (hg19) ; chr5:g.75359495C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75359495C>A , CM000667.2:g.75359495C>A	GRCh38
NC_000005.9:g.74655320C>A , CM000667.1:g.74655320C>A	GRCh37
NC_000005.8:g.74691076C>A	NCBI36
NG_011449.1:g.27328C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287936.9:c.2396C>A (HMGCR) MANE Select	ENSP00000287936.4:p.Ser799Tyr
ENST00000644912.1:c.1670-2483G>T (CERT1)	ENSP00000495172.1:n.1670-2483G>T
ENST00000646172.1:c.1203-2483G>T (CERT1)	ENSP00000494969.1:n.1203-2483G>T
ENST00000679456.1:n.3233C>A (HMGCR)
ENST00000680160.1:c.2396C>A (HMGCR)	ENSP00000505315.1:p.Ser799Tyr
ENST00000680940.1:c.2396C>A (HMGCR)	ENSP00000505561.1:p.Ser799Tyr
ENST00000681271.1:c.2396C>A (HMGCR)	ENSP00000505805.1:p.Ser799Tyr
ENST00000681410.1:c.2396C>A (HMGCR)	ENSP00000506232.1:p.Ser799Tyr
ENST00000681567.1:c.*2945C>A (HMGCR)	ENSP00000506708.1:n.*2945C>A
ENST00000287936.8:c.2396C>A (HMGCR)	ENSP00000287936.4:p.Ser799Tyr
ENST00000343975.9:c.2237C>A (HMGCR)	ENSP00000340816.5:p.Ser746Tyr
ENST00000509085.5:c.287+185C>A (HMGCR)
ENST00000511206.5:c.2396C>A (HMGCR)	ENSP00000426745.1:p.Ser799Tyr
ENST00000511986.1:c.139-490C>A (HMGCR)	ENSP00000420871.1:n.139-490C>A
ENST00000514315.2:n.337C>A (HMGCR)
NM_000859.2:c.2396C>A (HMGCR)	NP_000850.1:p.Ser799Tyr
NM_001130996.1:c.2237C>A (HMGCR)	NP_001124468.1:p.Ser746Tyr
XM_011543357.1:c.2456C>A (HMGCR)	XP_011541659.1:p.Ser819Tyr
XM_011543358.1:c.2396C>A (HMGCR)	XP_011541660.1:p.Ser799Tyr
XM_011543359.1:c.2297C>A (HMGCR)	XP_011541661.1:p.Ser766Tyr
NM_001364187.1:c.2396C>A (HMGCR)	NP_001351116.1:p.Ser799Tyr
NM_000859.3:c.2396C>A (HMGCR) MANE Select	NP_000850.1:p.Ser799Tyr
NM_001130996.2:c.2237C>A (HMGCR)	NP_001124468.1:p.Ser746Tyr