Canonical Allele Identifier: CA2674263073

Gene: HMGCR

Linked Data

• gnomAD v4: 5-75347074-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75347074T>G , CM000667.2:g.75347074T>G	GRCh38
NC_000005.9:g.74642899T>G , CM000667.1:g.74642899T>G	GRCh37
NC_000005.8:g.74678655T>G	NCBI36
NG_011449.1:g.14907T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000287936.9:c.451-130T>G MANE Select	ENSP00000287936.4:n.451-130T>G
ENST00000679456.1:n.1288-130T>G
ENST00000680160.1:c.451-130T>G	ENSP00000505315.1:n.451-130T>G
ENST00000680940.1:c.451-130T>G	ENSP00000505561.1:n.451-130T>G
ENST00000681271.1:c.451-130T>G	ENSP00000505805.1:n.451-130T>G
ENST00000681410.1:c.451-130T>G	ENSP00000506232.1:n.451-130T>G
ENST00000681567.1:c.*1000-130T>G	ENSP00000506708.1:n.*1000-130T>G
ENST00000287936.8:c.451-130T>G	ENSP00000287936.4:n.451-130T>G
ENST00000343975.9:c.451-130T>G	ENSP00000340816.5:n.451-130T>G
ENST00000511206.5:c.451-130T>G	ENSP00000426745.1:n.451-130T>G
NM_000859.2:c.451-130T>G	NP_000850.1:n.451-130T>G
NM_001130996.1:c.451-130T>G	NP_001124468.1:n.451-130T>G
XM_011543357.1:c.511-130T>G	XP_011541659.1:n.511-130T>G
XM_011543358.1:c.451-130T>G	XP_011541660.1:n.451-130T>G
XM_011543359.1:c.511-130T>G	XP_011541661.1:n.511-130T>G
NM_001364187.1:c.451-130T>G	NP_001351116.1:n.451-130T>G
NM_000859.3:c.451-130T>G MANE Select	NP_000850.1:n.451-130T>G
NM_001130996.2:c.451-130T>G	NP_001124468.1:n.451-130T>G