Canonical Allele Identifier: CA444779046

Gene: HMGCR CERT1

Linked Data

• gnomAD v4: 5-75359499-A-C
• MyVariant Identifiers: chr5:g.74655324A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75359499A>C , CM000667.2:g.75359499A>C	GRCh38
NC_000005.9:g.74655324A>C , CM000667.1:g.74655324A>C	GRCh37
NC_000005.8:g.74691080A>C	NCBI36
NG_011449.1:g.27332A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287936.9:c.2400A>C (HMGCR) MANE Select	ENSP00000287936.4:p.Ile800=
ENST00000644912.1:c.1670-2487T>G (CERT1)	ENSP00000495172.1:n.1670-2487T>G
ENST00000646172.1:c.1203-2487T>G (CERT1)	ENSP00000494969.1:n.1203-2487T>G
ENST00000679456.1:n.3237A>C (HMGCR)
ENST00000680160.1:c.2400A>C (HMGCR)	ENSP00000505315.1:p.Ile800=
ENST00000680940.1:c.2400A>C (HMGCR)	ENSP00000505561.1:p.Ile800=
ENST00000681271.1:c.2400A>C (HMGCR)	ENSP00000505805.1:p.Ile800=
ENST00000681410.1:c.2400A>C (HMGCR)	ENSP00000506232.1:p.Ile800=
ENST00000681567.1:c.*2949A>C (HMGCR)	ENSP00000506708.1:n.*2949A>C
ENST00000287936.8:c.2400A>C (HMGCR)	ENSP00000287936.4:p.Ile800=
ENST00000343975.9:c.2241A>C (HMGCR)	ENSP00000340816.5:p.Ile747=
ENST00000509085.5:c.287+189A>C (HMGCR)
ENST00000511206.5:c.2400A>C (HMGCR)	ENSP00000426745.1:p.Ile800=
ENST00000511986.1:c.139-486A>C (HMGCR)	ENSP00000420871.1:n.139-486A>C
ENST00000514315.2:n.341A>C (HMGCR)
NM_000859.2:c.2400A>C (HMGCR)	NP_000850.1:p.Ile800=
NM_001130996.1:c.2241A>C (HMGCR)	NP_001124468.1:p.Ile747=
XM_011543357.1:c.2460A>C (HMGCR)	XP_011541659.1:p.Ile820=
XM_011543358.1:c.2400A>C (HMGCR)	XP_011541660.1:p.Ile800=
XM_011543359.1:c.2301A>C (HMGCR)	XP_011541661.1:p.Ile767=
NM_001364187.1:c.2400A>C (HMGCR)	NP_001351116.1:p.Ile800=
NM_000859.3:c.2400A>C (HMGCR) MANE Select	NP_000850.1:p.Ile800=
NM_001130996.2:c.2241A>C (HMGCR)	NP_001124468.1:p.Ile747=