Canonical Allele Identifier: CA360129307

Gene: HMGCR CERT1

Linked Data

• dbSNP Id: rs1760718433
• gnomAD v4: 5-75359504-T-G
• MyVariant Identifiers: chr5:g.74655329T>G (hg19) ; chr5:g.75359504T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75359504T>G , CM000667.2:g.75359504T>G	GRCh38
NC_000005.9:g.74655329T>G , CM000667.1:g.74655329T>G	GRCh37
NC_000005.8:g.74691085T>G	NCBI36
NG_011449.1:g.27337T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000287936.9:c.2405T>G (HMGCR) MANE Select	ENSP00000287936.4:p.Ile802Arg
ENST00000644912.1:c.1670-2492A>C (CERT1)	ENSP00000495172.1:n.1670-2492A>C
ENST00000646172.1:c.1203-2492A>C (CERT1)	ENSP00000494969.1:n.1203-2492A>C
ENST00000679456.1:n.3242T>G (HMGCR)
ENST00000680160.1:c.2405T>G (HMGCR)	ENSP00000505315.1:p.Ile802Arg
ENST00000680940.1:c.2405T>G (HMGCR)	ENSP00000505561.1:p.Ile802Arg
ENST00000681271.1:c.2405T>G (HMGCR)	ENSP00000505805.1:p.Ile802Arg
ENST00000681410.1:c.2405T>G (HMGCR)	ENSP00000506232.1:p.Ile802Arg
ENST00000681567.1:c.*2954T>G (HMGCR)	ENSP00000506708.1:n.*2954T>G
ENST00000287936.8:c.2405T>G (HMGCR)	ENSP00000287936.4:p.Ile802Arg
ENST00000343975.9:c.2246T>G (HMGCR)	ENSP00000340816.5:p.Ile749Arg
ENST00000509085.5:c.287+194T>G (HMGCR)
ENST00000511206.5:c.2405T>G (HMGCR)	ENSP00000426745.1:p.Ile802Arg
ENST00000511986.1:c.139-481T>G (HMGCR)	ENSP00000420871.1:n.139-481T>G
ENST00000514315.2:n.346T>G (HMGCR)
NM_000859.2:c.2405T>G (HMGCR)	NP_000850.1:p.Ile802Arg
NM_001130996.1:c.2246T>G (HMGCR)	NP_001124468.1:p.Ile749Arg
XM_011543357.1:c.2465T>G (HMGCR)	XP_011541659.1:p.Ile822Arg
XM_011543358.1:c.2405T>G (HMGCR)	XP_011541660.1:p.Ile802Arg
XM_011543359.1:c.2306T>G (HMGCR)	XP_011541661.1:p.Ile769Arg
NM_001364187.1:c.2405T>G (HMGCR)	NP_001351116.1:p.Ile802Arg
NM_000859.3:c.2405T>G (HMGCR) MANE Select	NP_000850.1:p.Ile802Arg
NM_001130996.2:c.2246T>G (HMGCR)	NP_001124468.1:p.Ile749Arg