Canonical Allele Identifier: CA1077597698

Gene: HMGCR

Linked Data

• dbSNP Id: rs1760554277
• gnomAD v3: 5-75355288-A-AATTAGTGATACCTTTTGGGTCAAGCATGAGC
• gnomAD v4: 5-75355288-A-AATTAGTGATACCTTTTGGGTCAAGCATGAGC

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75355292_75355322dup , CM000667.2:g.75355292_75355322dup	GRCh38
NC_000005.9:g.74651117_74651147dup , CM000667.1:g.74651117_74651147dup	GRCh37
NC_000005.8:g.74686873_74686903dup	NCBI36
NG_011449.1:g.23125_23155dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287936.9:c.1723-73_1723-43dup MANE Select	ENSP00000287936.4:n.1723-73_1723-43dup
ENST00000679456.1:n.2560-73_2560-43dup
ENST00000680160.1:c.1723-73_1723-43dup	ENSP00000505315.1:n.1723-73_1723-43dup
ENST00000680940.1:c.1723-73_1723-43dup	ENSP00000505561.1:n.1723-73_1723-43dup
ENST00000681271.1:c.1723-73_1723-43dup	ENSP00000505805.1:n.1723-73_1723-43dup
ENST00000681410.1:c.1723-73_1723-43dup	ENSP00000506232.1:n.1723-73_1723-43dup
ENST00000681567.1:c.*2272-73_*2272-43dup	ENSP00000506708.1:n.*2272-73_*2272-43dup
ENST00000287936.8:c.1723-73_1723-43dup	ENSP00000287936.4:n.1723-73_1723-43dup
ENST00000343975.9:c.1564-73_1564-43dup	ENSP00000340816.5:n.1564-73_1564-43dup
ENST00000508070.1:n.113_143dup
ENST00000511206.5:c.1723-73_1723-43dup	ENSP00000426745.1:n.1723-73_1723-43dup
NM_000859.2:c.1723-73_1723-43dup	NP_000850.1:n.1723-73_1723-43dup
NM_001130996.1:c.1564-73_1564-43dup	NP_001124468.1:n.1564-73_1564-43dup
XM_011543357.1:c.1783-73_1783-43dup	XP_011541659.1:n.1783-73_1783-43dup
XM_011543358.1:c.1723-73_1723-43dup	XP_011541660.1:n.1723-73_1723-43dup
XM_011543359.1:c.1624-73_1624-43dup	XP_011541661.1:n.1624-73_1624-43dup
NM_001364187.1:c.1723-73_1723-43dup	NP_001351116.1:n.1723-73_1723-43dup
NM_000859.3:c.1723-73_1723-43dup MANE Select	NP_000850.1:n.1723-73_1723-43dup
NM_001130996.2:c.1564-73_1564-43dup	NP_001124468.1:n.1564-73_1564-43dup