Canonical Allele Identifier: CA813930662

Gene: HMGCR CERT1

Linked Data

• dbSNP Id: rs1219433323
• gnomAD v3: 5-75359756-G-C
• gnomAD v4: 5-75359756-G-C
• MyVariant Identifiers: chr5:g.74655581G>C (hg19) ; chr5:g.75359756G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75359756G>C , CM000667.2:g.75359756G>C	GRCh38
NC_000005.9:g.74655581G>C , CM000667.1:g.74655581G>C	GRCh37
NC_000005.8:g.74691337G>C	NCBI36
NG_011449.1:g.27589G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287936.9:c.2457+200G>C (HMGCR) MANE Select	ENSP00000287936.4:n.2457+200G>C
ENST00000644912.1:c.1670-2744C>G (CERT1)	ENSP00000495172.1:n.1670-2744C>G
ENST00000646172.1:c.1203-2744C>G (CERT1)	ENSP00000494969.1:n.1203-2744C>G
ENST00000679456.1:n.3294+200G>C (HMGCR)
ENST00000680160.1:c.2413-229G>C (HMGCR)	ENSP00000505315.1:n.2413-229G>C
ENST00000680940.1:c.2457+200G>C (HMGCR)	ENSP00000505561.1:n.2457+200G>C
ENST00000681271.1:c.2457+200G>C (HMGCR)	ENSP00000505805.1:n.2457+200G>C
ENST00000681410.1:c.2457+200G>C (HMGCR)	ENSP00000506232.1:n.2457+200G>C
ENST00000681567.1:c.*3006+200G>C (HMGCR)	ENSP00000506708.1:n.*3006+200G>C
ENST00000287936.8:c.2457+200G>C (HMGCR)	ENSP00000287936.4:n.2457+200G>C
ENST00000343975.9:c.2298+200G>C (HMGCR)	ENSP00000340816.5:n.2298+200G>C
ENST00000509085.5:c.288-229G>C (HMGCR)
ENST00000511206.5:c.2457+200G>C (HMGCR)	ENSP00000426745.1:n.2457+200G>C
ENST00000511986.1:c.139-229G>C (HMGCR)	ENSP00000420871.1:n.139-229G>C
ENST00000514315.2:n.598G>C (HMGCR)
NM_000859.2:c.2457+200G>C (HMGCR)	NP_000850.1:n.2457+200G>C
NM_001130996.1:c.2298+200G>C (HMGCR)	NP_001124468.1:n.2298+200G>C
XM_011543357.1:c.2517+200G>C (HMGCR)	XP_011541659.1:n.2517+200G>C
XM_011543358.1:c.2457+200G>C (HMGCR)	XP_011541660.1:n.2457+200G>C
XM_011543359.1:c.2358+200G>C (HMGCR)	XP_011541661.1:n.2358+200G>C
NM_001364187.1:c.2457+200G>C (HMGCR)	NP_001351116.1:n.2457+200G>C
NM_000859.3:c.2457+200G>C (HMGCR) MANE Select	NP_000850.1:n.2457+200G>C
NM_001130996.2:c.2298+200G>C (HMGCR)	NP_001124468.1:n.2298+200G>C