Canonical Allele Identifier: CA12003290
Gene: HMGCR HGNC NCBI

Linked Data

dbSNP Id: rs17238484
gnomAD v2: 5-74648496-G-T
gnomAD v3: 5-75352671-G-T
gnomAD v4: 5-75352671-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.75352671G>T , CM000667.2:g.75352671G>T GRCh38
NC_000005.9:g.74648496G>T , CM000667.1:g.74648496G>T GRCh37
NC_000005.8:g.74684252G>T NCBI36
NG_011449.1:g.20504G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000287936.9:c.1368+1069G>T MANE Select ENSP00000287936.4:n.1368+1069G>T
ENST00000679456.1:n.2205+1069G>T
ENST00000680160.1:c.1368+1069G>T ENSP00000505315.1:n.1368+1069G>T
ENST00000680940.1:c.1368+1069G>T ENSP00000505561.1:n.1368+1069G>T
ENST00000681271.1:c.1368+1069G>T ENSP00000505805.1:n.1368+1069G>T
ENST00000681410.1:c.1368+1069G>T ENSP00000506232.1:n.1368+1069G>T
ENST00000681567.1:c.*1917+1069G>T ENSP00000506708.1:n.*1917+1069G>T
ENST00000287936.8:c.1368+1069G>T ENSP00000287936.4:n.1368+1069G>T
ENST00000343975.9:c.1368+1069G>T ENSP00000340816.5:n.1368+1069G>T
ENST00000511206.5:c.1368+1069G>T ENSP00000426745.1:n.1368+1069G>T
NM_000859.2:c.1368+1069G>T NP_000850.1:n.1368+1069G>T
NM_001130996.1:c.1368+1069G>T NP_001124468.1:n.1368+1069G>T
XM_011543357.1:c.1428+1069G>T XP_011541659.1:n.1428+1069G>T
XM_011543358.1:c.1368+1069G>T XP_011541660.1:n.1368+1069G>T
XM_011543359.1:c.1428+1069G>T XP_011541661.1:n.1428+1069G>T
NM_001364187.1:c.1368+1069G>T NP_001351116.1:n.1368+1069G>T
NM_000859.3:c.1368+1069G>T MANE Select NP_000850.1:n.1368+1069G>T
NM_001130996.2:c.1368+1069G>T NP_001124468.1:n.1368+1069G>T