Canonical Allele Identifier: CA120921989

Gene: HMGCR CERT1

Linked Data

• dbSNP Id: rs767096781
• MyVariant Identifiers: chr5:g.74655630_74655631del (hg19) ; chr5:g.75359805_75359806del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75359806_75359807del , CM000667.2:g.75359806_75359807del	GRCh38
NC_000005.9:g.74655631_74655632del , CM000667.1:g.74655631_74655632del	GRCh37
NC_000005.8:g.74691387_74691388del	NCBI36
NG_011449.1:g.27639_27640del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287936.9:c.2458-179_2458-178del (HMGCR) MANE Select	ENSP00000287936.4:n.2458-179_2458-178del
ENST00000644912.1:c.1670-2794_1670-2793del (CERT1)	ENSP00000495172.1:n.1670-2794_1670-2793del
ENST00000646172.1:c.1203-2794_1203-2793del (CERT1)	ENSP00000494969.1:n.1203-2794_1203-2793del
ENST00000679456.1:n.3295-179_3295-178del (HMGCR)
ENST00000680160.1:c.2413-179_2413-178del (HMGCR)	ENSP00000505315.1:n.2413-179_2413-178del
ENST00000680940.1:c.2458-179_2458-178del (HMGCR)	ENSP00000505561.1:n.2458-179_2458-178del
ENST00000681271.1:c.2458-179_2458-178del (HMGCR)	ENSP00000505805.1:n.2458-179_2458-178del
ENST00000681410.1:c.2458-179_2458-178del (HMGCR)	ENSP00000506232.1:n.2458-179_2458-178del
ENST00000681567.1:c.*3007-179_*3007-178del (HMGCR)	ENSP00000506708.1:n.*3007-179_*3007-178del
ENST00000287936.8:c.2458-179_2458-178del (HMGCR)	ENSP00000287936.4:n.2458-179_2458-178del
ENST00000343975.9:c.2299-179_2299-178del (HMGCR)	ENSP00000340816.5:n.2299-179_2299-178del
ENST00000509085.5:c.288-179_288-178del (HMGCR)
ENST00000511206.5:c.2458-179_2458-178del (HMGCR)	ENSP00000426745.1:n.2458-179_2458-178del
ENST00000511986.1:c.139-179_139-178del (HMGCR)	ENSP00000420871.1:n.139-179_139-178del
NM_000859.2:c.2458-179_2458-178del (HMGCR)	NP_000850.1:n.2458-179_2458-178del
NM_001130996.1:c.2299-179_2299-178del (HMGCR)	NP_001124468.1:n.2299-179_2299-178del
XM_011543357.1:c.2518-179_2518-178del (HMGCR)	XP_011541659.1:n.2518-179_2518-178del
XM_011543358.1:c.2458-179_2458-178del (HMGCR)	XP_011541660.1:n.2458-179_2458-178del
XM_011543359.1:c.2359-179_2359-178del (HMGCR)	XP_011541661.1:n.2359-179_2359-178del
NM_001364187.1:c.2458-179_2458-178del (HMGCR)	NP_001351116.1:n.2458-179_2458-178del
NM_000859.3:c.2458-179_2458-178del (HMGCR) MANE Select	NP_000850.1:n.2458-179_2458-178del
NM_001130996.2:c.2299-179_2299-178del (HMGCR)	NP_001124468.1:n.2299-179_2299-178del