Canonical Allele Identifier: CA2674266567

Gene: HMGCR

Linked Data

• gnomAD v4: 5-75355279-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75355279T>C , CM000667.2:g.75355279T>C	GRCh38
NC_000005.9:g.74651104T>C , CM000667.1:g.74651104T>C	GRCh37
NC_000005.8:g.74686860T>C	NCBI36
NG_011449.1:g.23112T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287936.9:c.1722+65T>C MANE Select	ENSP00000287936.4:n.1722+65T>C
ENST00000679456.1:n.2559+65T>C
ENST00000680160.1:c.1722+65T>C	ENSP00000505315.1:n.1722+65T>C
ENST00000680940.1:c.1722+65T>C	ENSP00000505561.1:n.1722+65T>C
ENST00000681271.1:c.1722+65T>C	ENSP00000505805.1:n.1722+65T>C
ENST00000681410.1:c.1722+65T>C	ENSP00000506232.1:n.1722+65T>C
ENST00000681567.1:c.*2271+65T>C	ENSP00000506708.1:n.*2271+65T>C
ENST00000287936.8:c.1722+65T>C	ENSP00000287936.4:n.1722+65T>C
ENST00000343975.9:c.1564-86T>C	ENSP00000340816.5:n.1564-86T>C
ENST00000508070.1:n.100T>C
ENST00000511206.5:c.1722+65T>C	ENSP00000426745.1:n.1722+65T>C
NM_000859.2:c.1722+65T>C	NP_000850.1:n.1722+65T>C
NM_001130996.1:c.1564-86T>C	NP_001124468.1:n.1564-86T>C
XM_011543357.1:c.1782+65T>C	XP_011541659.1:n.1782+65T>C
XM_011543358.1:c.1722+65T>C	XP_011541660.1:n.1722+65T>C
XM_011543359.1:c.1624-86T>C	XP_011541661.1:n.1624-86T>C
NM_001364187.1:c.1722+65T>C	NP_001351116.1:n.1722+65T>C
NM_000859.3:c.1722+65T>C MANE Select	NP_000850.1:n.1722+65T>C
NM_001130996.2:c.1564-86T>C	NP_001124468.1:n.1564-86T>C