Canonical Allele Identifier: CA891862589

Gene: HMGCR

Linked Data

• ClinVar Variation Id: 14902
• ClinVar RCV Id: RCV000016031

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.[75347030A>T;75359673T>G] , CM000667.2:g.[75347030A>T;75359673T>G]	GRCh38
NC_000005.9:g.[74642855A>T;74655498T>G] , CM000667.1:g.[74642855A>T;74655498T>G]	GRCh37
NC_000005.8:g.[74678611A>T;74691254T>G]	NCBI36
NG_011449.1:g.[14863A>T;27506T>G]

Transcript Alleles

HGVS	Amino-acid change
ENST00000287936.9:c.[451-174A>T;2457+117T>G] MANE Select	ENSP00000287936.4:n.[451-174A>T;2457+117T...
ENST00000679456.1:n.[1288-174A>T;3294+117T>G]
ENST00000680160.1:c.[451-174A>T;2412+162T>G]	ENSP00000505315.1:n.[451-174A>T;2412+162T...
ENST00000680940.1:c.[451-174A>T;2457+117T>G]	ENSP00000505561.1:n.[451-174A>T;2457+117T...
ENST00000681271.1:c.[451-174A>T;2457+117T>G]	ENSP00000505805.1:n.[451-174A>T;2457+117T...
ENST00000681410.1:c.[451-174A>T;2457+117T>G]	ENSP00000506232.1:n.[451-174A>T;2457+117T...
ENST00000681567.1:c.[*1000-174A>T;*3006+117T>G]	ENSP00000506708.1:n.[*1000-174A>T;*3006+1...
ENST00000287936.8:c.[451-174A>T;2457+117T>G]	ENSP00000287936.4:n.[451-174A>T;2457+117T...
ENST00000343975.9:c.[451-174A>T;2298+117T>G]	ENSP00000340816.5:n.[451-174A>T;2298+117T...
ENST00000511206.5:c.[451-174A>T;2457+117T>G]	ENSP00000426745.1:n.[451-174A>T;2457+117T...
NM_000859.2:c.[451-174A>T;2457+117T>G]	NP_000850.1:n.[451-174A>T;2457+117T>G]
NM_001130996.1:c.[451-174A>T;2298+117T>G]	NP_001124468.1:n.[451-174A>T;2298+117T>G]...
XM_011543357.1:c.[511-174A>T;2517+117T>G]	XP_011541659.1:n.[511-174A>T;2517+117T>G]...
XM_011543358.1:c.[451-174A>T;2457+117T>G]	XP_011541660.1:n.[451-174A>T;2457+117T>G]...
XM_011543359.1:c.[511-174A>T;2358+117T>G]	XP_011541661.1:n.[511-174A>T;2358+117T>G]...
NM_001364187.1:c.[451-174A>T;2457+117T>G]	NP_001351116.1:n.[451-174A>T;2457+117T>G]...
NM_000859.3:c.[451-174A>T;2457+117T>G] MANE Select	NP_000850.1:n.[451-174A>T;2457+117T>G]
NM_001130996.2:c.[451-174A>T;2298+117T>G]	NP_001124468.1:n.[451-174A>T;2298+117T>G]...