Canonical Allele Identifier: CA360129119

Gene: HMGCR CERT1

Linked Data

• gnomAD v4: 5-75359434-A-T
• MyVariant Identifiers: chr5:g.74655259A>T (hg19) ; chr5:g.75359434A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75359434A>T , CM000667.2:g.75359434A>T	GRCh38
NC_000005.9:g.74655259A>T , CM000667.1:g.74655259A>T	GRCh37
NC_000005.8:g.74691015A>T	NCBI36
NG_011449.1:g.27267A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287936.9:c.2335A>T (HMGCR) MANE Select	ENSP00000287936.4:p.Thr779Ser
ENST00000644912.1:c.1670-2422T>A (CERT1)	ENSP00000495172.1:n.1670-2422T>A
ENST00000646172.1:c.1203-2422T>A (CERT1)	ENSP00000494969.1:n.1203-2422T>A
ENST00000679456.1:n.3172A>T (HMGCR)
ENST00000680160.1:c.2335A>T (HMGCR)	ENSP00000505315.1:p.Thr779Ser
ENST00000680940.1:c.2335A>T (HMGCR)	ENSP00000505561.1:p.Thr779Ser
ENST00000681271.1:c.2335A>T (HMGCR)	ENSP00000505805.1:p.Thr779Ser
ENST00000681410.1:c.2335A>T (HMGCR)	ENSP00000506232.1:p.Thr779Ser
ENST00000681567.1:c.*2884A>T (HMGCR)	ENSP00000506708.1:n.*2884A>T
ENST00000287936.8:c.2335A>T (HMGCR)	ENSP00000287936.4:p.Thr779Ser
ENST00000343975.9:c.2176A>T (HMGCR)	ENSP00000340816.5:p.Thr726Ser
ENST00000509085.5:c.287+124A>T (HMGCR)
ENST00000511206.5:c.2335A>T (HMGCR)	ENSP00000426745.1:p.Thr779Ser
ENST00000511986.1:c.139-551A>T (HMGCR)	ENSP00000420871.1:n.139-551A>T
ENST00000514315.2:n.276A>T (HMGCR)
NM_000859.2:c.2335A>T (HMGCR)	NP_000850.1:p.Thr779Ser
NM_001130996.1:c.2176A>T (HMGCR)	NP_001124468.1:p.Thr726Ser
XM_011543357.1:c.2395A>T (HMGCR)	XP_011541659.1:p.Thr799Ser
XM_011543358.1:c.2335A>T (HMGCR)	XP_011541660.1:p.Thr779Ser
XM_011543359.1:c.2236A>T (HMGCR)	XP_011541661.1:p.Thr746Ser
NM_001364187.1:c.2335A>T (HMGCR)	NP_001351116.1:p.Thr779Ser
NM_000859.3:c.2335A>T (HMGCR) MANE Select	NP_000850.1:p.Thr779Ser
NM_001130996.2:c.2176A>T (HMGCR)	NP_001124468.1:p.Thr726Ser