Canonical Allele Identifier: CA360129144

Gene: HMGCR CERT1

Linked Data

• MyVariant Identifiers: chr5:g.74655263T>G (hg19) ; chr5:g.75359438T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75359438T>G , CM000667.2:g.75359438T>G	GRCh38
NC_000005.9:g.74655263T>G , CM000667.1:g.74655263T>G	GRCh37
NC_000005.8:g.74691019T>G	NCBI36
NG_011449.1:g.27271T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287936.9:c.2339T>G (HMGCR) MANE Select	ENSP00000287936.4:p.Leu780Ter
ENST00000644912.1:c.1670-2426A>C (CERT1)	ENSP00000495172.1:n.1670-2426A>C
ENST00000646172.1:c.1203-2426A>C (CERT1)	ENSP00000494969.1:n.1203-2426A>C
ENST00000679456.1:n.3176T>G (HMGCR)
ENST00000680160.1:c.2339T>G (HMGCR)	ENSP00000505315.1:p.Leu780Ter
ENST00000680940.1:c.2339T>G (HMGCR)	ENSP00000505561.1:p.Leu780Ter
ENST00000681271.1:c.2339T>G (HMGCR)	ENSP00000505805.1:p.Leu780Ter
ENST00000681410.1:c.2339T>G (HMGCR)	ENSP00000506232.1:p.Leu780Ter
ENST00000681567.1:c.*2888T>G (HMGCR)	ENSP00000506708.1:n.*2888T>G
ENST00000287936.8:c.2339T>G (HMGCR)	ENSP00000287936.4:p.Leu780Ter
ENST00000343975.9:c.2180T>G (HMGCR)	ENSP00000340816.5:p.Leu727Ter
ENST00000509085.5:c.287+128T>G (HMGCR)
ENST00000511206.5:c.2339T>G (HMGCR)	ENSP00000426745.1:p.Leu780Ter
ENST00000511986.1:c.139-547T>G (HMGCR)	ENSP00000420871.1:n.139-547T>G
ENST00000514315.2:n.280T>G (HMGCR)
NM_000859.2:c.2339T>G (HMGCR)	NP_000850.1:p.Leu780Ter
NM_001130996.1:c.2180T>G (HMGCR)	NP_001124468.1:p.Leu727Ter
XM_011543357.1:c.2399T>G (HMGCR)	XP_011541659.1:p.Leu800Ter
XM_011543358.1:c.2339T>G (HMGCR)	XP_011541660.1:p.Leu780Ter
XM_011543359.1:c.2240T>G (HMGCR)	XP_011541661.1:p.Leu747Ter
NM_001364187.1:c.2339T>G (HMGCR)	NP_001351116.1:p.Leu780Ter
NM_000859.3:c.2339T>G (HMGCR) MANE Select	NP_000850.1:p.Leu780Ter
NM_001130996.2:c.2180T>G (HMGCR)	NP_001124468.1:p.Leu727Ter