Canonical Allele Identifier: CA360129628

Gene: HMGCR CERT1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75359992G>A , CM000667.2:g.75359992G>A	GRCh38
NC_000005.9:g.74655817G>A , CM000667.1:g.74655817G>A	GRCh37
NC_000005.8:g.74691573G>A	NCBI36
NG_011449.1:g.27825G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000859.3:c.2465G>A (HMGCR) MANE Select	NP_000850.1:p.Gly822Asp
ENST00000287936.9:c.2465G>A (HMGCR) MANE Select	ENSP00000287936.4:p.Gly822Asp
NM_000859.2:c.2465G>A (HMGCR)	NP_000850.1:p.Gly822Asp
NM_001130996.1:c.2306G>A (HMGCR)	NP_001124468.1:p.Gly769Asp
NM_001130996.2:c.2306G>A (HMGCR)	NP_001124468.1:p.Gly769Asp
NM_001364187.1:c.2465G>A (HMGCR)	NP_001351116.1:p.Gly822Asp
ENST00000287936.8:c.2465G>A (HMGCR)	ENSP00000287936.4:p.Gly822Asp
ENST00000343975.9:c.2306G>A (HMGCR)	ENSP00000340816.5:p.Gly769Asp
ENST00000509085.5:c.295G>A (HMGCR)
ENST00000511206.5:c.2465G>A (HMGCR)	ENSP00000426745.1:p.Gly822Asp
ENST00000511986.1:c.146G>A (HMGCR)	ENSP00000420871.1:p.Gly49Asp
ENST00000512053.1:n.76G>A (HMGCR)
ENST00000644912.1:c.1670-2980C>T (CERT1)	ENSP00000495172.1:n.1670-2980C>T
ENST00000646172.1:c.1203-2980C>T (CERT1)	ENSP00000494969.1:n.1203-2980C>T
ENST00000679456.1:n.3302G>A (HMGCR)
ENST00000680160.1:c.2420G>A (HMGCR)	ENSP00000505315.1:p.Gly807Asp
ENST00000680940.1:c.2465G>A (HMGCR)	ENSP00000505561.1:p.Gly822Asp
ENST00000681271.1:c.2465G>A (HMGCR)	ENSP00000505805.1:p.Gly822Asp
ENST00000681410.1:c.2465G>A (HMGCR)	ENSP00000506232.1:p.Gly822Asp
ENST00000681567.1:c.*3014G>A (HMGCR)	ENSP00000506708.1:n.*3014G>A
XM_011543357.1:c.2525G>A (HMGCR)	XP_011541659.1:p.Gly842Asp
XM_011543358.1:c.2465G>A (HMGCR)	XP_011541660.1:p.Gly822Asp
XM_011543359.1:c.2366G>A (HMGCR)	XP_011541661.1:p.Gly789Asp