Canonical Allele Identifier: CA3308843

Gene: HMGCR CERT1

Linked Data

• dbSNP Id: rs199829764
• ExAC: 5:74655216 T / A
• gnomAD v2: 5-74655216-T-A
• gnomAD v3: 5-75359391-T-A
• gnomAD v4: 5-75359391-T-A
• MyVariant Identifiers: chr5:g.74655216T>A (hg19) ; chr5:g.75359391T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75359391T>A , CM000667.2:g.75359391T>A	GRCh38
NC_000005.9:g.74655216T>A , CM000667.1:g.74655216T>A	GRCh37
NC_000005.8:g.74690972T>A	NCBI36
NG_011449.1:g.27224T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287936.9:c.2299-7T>A (HMGCR) MANE Select	ENSP00000287936.4:n.2299-7T>A
ENST00000644912.1:c.1670-2379A>T (CERT1)	ENSP00000495172.1:n.1670-2379A>T
ENST00000646172.1:c.1203-2379A>T (CERT1)	ENSP00000494969.1:n.1203-2379A>T
ENST00000679456.1:n.3136-7T>A (HMGCR)
ENST00000680160.1:c.2299-7T>A (HMGCR)	ENSP00000505315.1:n.2299-7T>A
ENST00000680940.1:c.2299-7T>A (HMGCR)	ENSP00000505561.1:n.2299-7T>A
ENST00000681271.1:c.2299-7T>A (HMGCR)	ENSP00000505805.1:n.2299-7T>A
ENST00000681410.1:c.2299-7T>A (HMGCR)	ENSP00000506232.1:n.2299-7T>A
ENST00000681567.1:c.*2848-7T>A (HMGCR)	ENSP00000506708.1:n.*2848-7T>A
ENST00000287936.8:c.2299-7T>A (HMGCR)	ENSP00000287936.4:n.2299-7T>A
ENST00000343975.9:c.2140-7T>A (HMGCR)	ENSP00000340816.5:n.2140-7T>A
ENST00000509085.5:c.287+81T>A (HMGCR)
ENST00000511206.5:c.2299-7T>A (HMGCR)	ENSP00000426745.1:n.2299-7T>A
ENST00000511986.1:c.138+564T>A (HMGCR)	ENSP00000420871.1:n.138+564T>A
ENST00000514315.2:n.240-7T>A (HMGCR)
NM_000859.2:c.2299-7T>A (HMGCR)	NP_000850.1:n.2299-7T>A
NM_001130996.1:c.2140-7T>A (HMGCR)	NP_001124468.1:n.2140-7T>A
XM_011543357.1:c.2359-7T>A (HMGCR)	XP_011541659.1:n.2359-7T>A
XM_011543358.1:c.2299-7T>A (HMGCR)	XP_011541660.1:n.2299-7T>A
XM_011543359.1:c.2200-7T>A (HMGCR)	XP_011541661.1:n.2200-7T>A
NM_001364187.1:c.2299-7T>A (HMGCR)	NP_001351116.1:n.2299-7T>A
NM_000859.3:c.2299-7T>A (HMGCR) MANE Select	NP_000850.1:n.2299-7T>A
NM_001130996.2:c.2140-7T>A (HMGCR)	NP_001124468.1:n.2140-7T>A