Canonical Allele Identifier: CA560456150

Gene: HMGCR

Linked Data

• dbSNP Id: rs1443958358
• gnomAD v2: 5-74648399-G-A
• gnomAD v3: 5-75352574-G-A
• gnomAD v4: 5-75352574-G-A
• MyVariant Identifiers: chr5:g.74648399G>A (hg19) ; chr5:g.75352574G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75352574G>A , CM000667.2:g.75352574G>A	GRCh38
NC_000005.9:g.74648399G>A , CM000667.1:g.74648399G>A	GRCh37
NC_000005.8:g.74684155G>A	NCBI36
NG_011449.1:g.20407G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000287936.9:c.1368+972G>A MANE Select	ENSP00000287936.4:n.1368+972G>A
ENST00000679456.1:n.2205+972G>A
ENST00000680160.1:c.1368+972G>A	ENSP00000505315.1:n.1368+972G>A
ENST00000680940.1:c.1368+972G>A	ENSP00000505561.1:n.1368+972G>A
ENST00000681271.1:c.1368+972G>A	ENSP00000505805.1:n.1368+972G>A
ENST00000681410.1:c.1368+972G>A	ENSP00000506232.1:n.1368+972G>A
ENST00000681567.1:c.*1917+972G>A	ENSP00000506708.1:n.*1917+972G>A
ENST00000287936.8:c.1368+972G>A	ENSP00000287936.4:n.1368+972G>A
ENST00000343975.9:c.1368+972G>A	ENSP00000340816.5:n.1368+972G>A
ENST00000511206.5:c.1368+972G>A	ENSP00000426745.1:n.1368+972G>A
NM_000859.2:c.1368+972G>A	NP_000850.1:n.1368+972G>A
NM_001130996.1:c.1368+972G>A	NP_001124468.1:n.1368+972G>A
XM_011543357.1:c.1428+972G>A	XP_011541659.1:n.1428+972G>A
XM_011543358.1:c.1368+972G>A	XP_011541660.1:n.1368+972G>A
XM_011543359.1:c.1428+972G>A	XP_011541661.1:n.1428+972G>A
NM_001364187.1:c.1368+972G>A	NP_001351116.1:n.1368+972G>A
NM_000859.3:c.1368+972G>A MANE Select	NP_000850.1:n.1368+972G>A
NM_001130996.2:c.1368+972G>A	NP_001124468.1:n.1368+972G>A