Canonical Allele Identifier: CA2518290651
Gene: HMGCR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.75340784T>C , CM000667.2:g.75340784T>C GRCh38
NC_000005.9:g.74636609T>C , CM000667.1:g.74636609T>C GRCh37
NC_000005.8:g.74672365T>C NCBI36
NG_011449.1:g.8617T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000287936.9:c.-23-1799T>C MANE Select ENSP00000287936.4:n.-23-1799T>C
ENST00000679456.1:n.122-1799T>C
ENST00000680160.1:c.-23-1799T>C ENSP00000505315.1:n.-23-1799T>C
ENST00000680940.1:c.-24+96T>C ENSP00000505561.1:n.-24+96T>C
ENST00000681271.1:c.-23-1799T>C ENSP00000505805.1:n.-23-1799T>C
ENST00000681410.1:c.-23-1799T>C ENSP00000506232.1:n.-23-1799T>C
ENST00000681567.1:c.-23-1799T>C ENSP00000506708.1:n.-23-1799T>C
ENST00000287936.8:c.-23-1799T>C ENSP00000287936.4:n.-23-1799T>C
ENST00000343975.9:c.-23-1799T>C ENSP00000340816.5:n.-23-1799T>C
ENST00000442032.2:c.-24+1063T>C ENSP00000409100.2:n.-24+1063T>C
ENST00000507942.1:c.-23-1799T>C ENSP00000427340.1:n.-23-1799T>C
ENST00000509431.1:n.56-1799T>C
ENST00000511206.5:c.-23-1799T>C ENSP00000426745.1:n.-23-1799T>C
NM_000859.2:c.-23-1799T>C NP_000850.1:n.-23-1799T>C
NM_001130996.1:c.-23-1799T>C NP_001124468.1:n.-23-1799T>C
XM_011543357.1:c.38-1799T>C XP_011541659.1:n.38-1799T>C
XM_011543358.1:c.-23-1799T>C XP_011541660.1:n.-23-1799T>C
XM_011543359.1:c.38-1799T>C XP_011541661.1:n.38-1799T>C
NM_001364187.1:c.-23-1799T>C NP_001351116.1:n.-23-1799T>C
NM_000859.3:c.-23-1799T>C MANE Select NP_000850.1:n.-23-1799T>C
NM_001130996.2:c.-23-1799T>C NP_001124468.1:n.-23-1799T>C