Canonical Allele Identifier: CA360129446

Gene: HMGCR CERT1

Linked Data

• MyVariant Identifiers: chr5:g.74655356T>A (hg19) ; chr5:g.75359531T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75359531T>A , CM000667.2:g.75359531T>A	GRCh38
NC_000005.9:g.74655356T>A , CM000667.1:g.74655356T>A	GRCh37
NC_000005.8:g.74691112T>A	NCBI36
NG_011449.1:g.27364T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287936.9:c.2432T>A (HMGCR) MANE Select	ENSP00000287936.4:p.Leu811Gln
ENST00000644912.1:c.1670-2519A>T (CERT1)	ENSP00000495172.1:n.1670-2519A>T
ENST00000646172.1:c.1203-2519A>T (CERT1)	ENSP00000494969.1:n.1203-2519A>T
ENST00000679456.1:n.3269T>A (HMGCR)
ENST00000680160.1:c.2412+20T>A (HMGCR)	ENSP00000505315.1:n.2412+20T>A
ENST00000680940.1:c.2432T>A (HMGCR)	ENSP00000505561.1:p.Leu811Gln
ENST00000681271.1:c.2432T>A (HMGCR)	ENSP00000505805.1:p.Leu811Gln
ENST00000681410.1:c.2432T>A (HMGCR)	ENSP00000506232.1:p.Leu811Gln
ENST00000681567.1:c.*2981T>A (HMGCR)	ENSP00000506708.1:n.*2981T>A
ENST00000287936.8:c.2432T>A (HMGCR)	ENSP00000287936.4:p.Leu811Gln
ENST00000343975.9:c.2273T>A (HMGCR)	ENSP00000340816.5:p.Leu758Gln
ENST00000509085.5:c.287+221T>A (HMGCR)
ENST00000511206.5:c.2432T>A (HMGCR)	ENSP00000426745.1:p.Leu811Gln
ENST00000511986.1:c.139-454T>A (HMGCR)	ENSP00000420871.1:n.139-454T>A
ENST00000514315.2:n.373T>A (HMGCR)
NM_000859.2:c.2432T>A (HMGCR)	NP_000850.1:p.Leu811Gln
NM_001130996.1:c.2273T>A (HMGCR)	NP_001124468.1:p.Leu758Gln
XM_011543357.1:c.2492T>A (HMGCR)	XP_011541659.1:p.Leu831Gln
XM_011543358.1:c.2432T>A (HMGCR)	XP_011541660.1:p.Leu811Gln
XM_011543359.1:c.2333T>A (HMGCR)	XP_011541661.1:p.Leu778Gln
NM_001364187.1:c.2432T>A (HMGCR)	NP_001351116.1:p.Leu811Gln
NM_000859.3:c.2432T>A (HMGCR) MANE Select	NP_000850.1:p.Leu811Gln
NM_001130996.2:c.2273T>A (HMGCR)	NP_001124468.1:p.Leu758Gln