Canonical Allele Identifier: CA120921968

Gene: HMGCR CERT1

Linked Data

• dbSNP Id: rs35767444
• gnomAD v2: 5-74655563-T-C
• gnomAD v3: 5-75359738-T-C
• gnomAD v4: 5-75359738-T-C
• MyVariant Identifiers: chr5:g.74655563T>C (hg19) ; chr5:g.75359738T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75359738T>C , CM000667.2:g.75359738T>C	GRCh38
NC_000005.9:g.74655563T>C , CM000667.1:g.74655563T>C	GRCh37
NC_000005.8:g.74691319T>C	NCBI36
NG_011449.1:g.27571T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287936.9:c.2457+182T>C (HMGCR) MANE Select	ENSP00000287936.4:n.2457+182T>C
ENST00000644912.1:c.1670-2726A>G (CERT1)	ENSP00000495172.1:n.1670-2726A>G
ENST00000646172.1:c.1203-2726A>G (CERT1)	ENSP00000494969.1:n.1203-2726A>G
ENST00000679456.1:n.3294+182T>C (HMGCR)
ENST00000680160.1:c.2412+227T>C (HMGCR)	ENSP00000505315.1:n.2412+227T>C
ENST00000680940.1:c.2457+182T>C (HMGCR)	ENSP00000505561.1:n.2457+182T>C
ENST00000681271.1:c.2457+182T>C (HMGCR)	ENSP00000505805.1:n.2457+182T>C
ENST00000681410.1:c.2457+182T>C (HMGCR)	ENSP00000506232.1:n.2457+182T>C
ENST00000681567.1:c.*3006+182T>C (HMGCR)	ENSP00000506708.1:n.*3006+182T>C
ENST00000287936.8:c.2457+182T>C (HMGCR)	ENSP00000287936.4:n.2457+182T>C
ENST00000343975.9:c.2298+182T>C (HMGCR)	ENSP00000340816.5:n.2298+182T>C
ENST00000509085.5:c.288-247T>C (HMGCR)
ENST00000511206.5:c.2457+182T>C (HMGCR)	ENSP00000426745.1:n.2457+182T>C
ENST00000511986.1:c.139-247T>C (HMGCR)	ENSP00000420871.1:n.139-247T>C
ENST00000514315.2:n.580T>C (HMGCR)
NM_000859.2:c.2457+182T>C (HMGCR)	NP_000850.1:n.2457+182T>C
NM_001130996.1:c.2298+182T>C (HMGCR)	NP_001124468.1:n.2298+182T>C
XM_011543357.1:c.2517+182T>C (HMGCR)	XP_011541659.1:n.2517+182T>C
XM_011543358.1:c.2457+182T>C (HMGCR)	XP_011541660.1:n.2457+182T>C
XM_011543359.1:c.2358+182T>C (HMGCR)	XP_011541661.1:n.2358+182T>C
NM_001364187.1:c.2457+182T>C (HMGCR)	NP_001351116.1:n.2457+182T>C
NM_000859.3:c.2457+182T>C (HMGCR) MANE Select	NP_000850.1:n.2457+182T>C
NM_001130996.2:c.2298+182T>C (HMGCR)	NP_001124468.1:n.2298+182T>C