Canonical Allele Identifier: CA2709309087

Linked Data

dbSNP Id: rs2150361839

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.75359817G>A , CM000667.2:g.75359817G>A GRCh38
NC_000005.9:g.74655642G>A , CM000667.1:g.74655642G>A GRCh37
NC_000005.8:g.74691398G>A NCBI36
NG_011449.1:g.27650G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000287936.9:c.2458-168G>A (HMGCR) MANE Select ENSP00000287936.4:n.2458-168G>A
ENST00000644912.1:c.1670-2805C>T (CERT1) ENSP00000495172.1:n.1670-2805C>T
ENST00000646172.1:c.1203-2805C>T (CERT1) ENSP00000494969.1:n.1203-2805C>T
ENST00000679456.1:n.3295-168G>A (HMGCR)
ENST00000680160.1:c.2413-168G>A (HMGCR) ENSP00000505315.1:n.2413-168G>A
ENST00000680940.1:c.2458-168G>A (HMGCR) ENSP00000505561.1:n.2458-168G>A
ENST00000681271.1:c.2458-168G>A (HMGCR) ENSP00000505805.1:n.2458-168G>A
ENST00000681410.1:c.2458-168G>A (HMGCR) ENSP00000506232.1:n.2458-168G>A
ENST00000681567.1:c.*3007-168G>A (HMGCR) ENSP00000506708.1:n.*3007-168G>A
ENST00000287936.8:c.2458-168G>A (HMGCR) ENSP00000287936.4:n.2458-168G>A
ENST00000343975.9:c.2299-168G>A (HMGCR) ENSP00000340816.5:n.2299-168G>A
ENST00000509085.5:c.288-168G>A (HMGCR)
ENST00000511206.5:c.2458-168G>A (HMGCR) ENSP00000426745.1:n.2458-168G>A
ENST00000511986.1:c.139-168G>A (HMGCR) ENSP00000420871.1:n.139-168G>A
NM_000859.2:c.2458-168G>A (HMGCR) NP_000850.1:n.2458-168G>A
NM_001130996.1:c.2299-168G>A (HMGCR) NP_001124468.1:n.2299-168G>A
XM_011543357.1:c.2518-168G>A (HMGCR) XP_011541659.1:n.2518-168G>A
XM_011543358.1:c.2458-168G>A (HMGCR) XP_011541660.1:n.2458-168G>A
XM_011543359.1:c.2359-168G>A (HMGCR) XP_011541661.1:n.2359-168G>A
NM_001364187.1:c.2458-168G>A (HMGCR) NP_001351116.1:n.2458-168G>A
NM_000859.3:c.2458-168G>A (HMGCR) MANE Select NP_000850.1:n.2458-168G>A
NM_001130996.2:c.2299-168G>A (HMGCR) NP_001124468.1:n.2299-168G>A