Canonical Allele Identifier: CA444779050

Linked Data

MyVariant Identifiers: chr5:g.74655333A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.75359508A>C , CM000667.2:g.75359508A>C GRCh38
NC_000005.9:g.74655333A>C , CM000667.1:g.74655333A>C GRCh37
NC_000005.8:g.74691089A>C NCBI36
NG_011449.1:g.27341A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000287936.9:c.2409A>C (HMGCR) MANE Select ENSP00000287936.4:p.Gly803=
ENST00000644912.1:c.1670-2496T>G (CERT1) ENSP00000495172.1:n.1670-2496T>G
ENST00000646172.1:c.1203-2496T>G (CERT1) ENSP00000494969.1:n.1203-2496T>G
ENST00000679456.1:n.3246A>C (HMGCR)
ENST00000680160.1:c.2409A>C (HMGCR) ENSP00000505315.1:p.Gly803=
ENST00000680940.1:c.2409A>C (HMGCR) ENSP00000505561.1:p.Gly803=
ENST00000681271.1:c.2409A>C (HMGCR) ENSP00000505805.1:p.Gly803=
ENST00000681410.1:c.2409A>C (HMGCR) ENSP00000506232.1:p.Gly803=
ENST00000681567.1:c.*2958A>C (HMGCR) ENSP00000506708.1:n.*2958A>C
ENST00000287936.8:c.2409A>C (HMGCR) ENSP00000287936.4:p.Gly803=
ENST00000343975.9:c.2250A>C (HMGCR) ENSP00000340816.5:p.Gly750=
ENST00000509085.5:c.287+198A>C (HMGCR)
ENST00000511206.5:c.2409A>C (HMGCR) ENSP00000426745.1:p.Gly803=
ENST00000511986.1:c.139-477A>C (HMGCR) ENSP00000420871.1:n.139-477A>C
ENST00000514315.2:n.350A>C (HMGCR)
NM_000859.2:c.2409A>C (HMGCR) NP_000850.1:p.Gly803=
NM_001130996.1:c.2250A>C (HMGCR) NP_001124468.1:p.Gly750=
XM_011543357.1:c.2469A>C (HMGCR) XP_011541659.1:p.Gly823=
XM_011543358.1:c.2409A>C (HMGCR) XP_011541660.1:p.Gly803=
XM_011543359.1:c.2310A>C (HMGCR) XP_011541661.1:p.Gly770=
NM_001364187.1:c.2409A>C (HMGCR) NP_001351116.1:p.Gly803=
NM_000859.3:c.2409A>C (HMGCR) MANE Select NP_000850.1:p.Gly803=
NM_001130996.2:c.2250A>C (HMGCR) NP_001124468.1:p.Gly750=