Canonical Allele Identifier: CA360125062

Gene: HMGCR

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75355129T>C , CM000667.2:g.75355129T>C	GRCh38
NC_000005.9:g.74650954T>C , CM000667.1:g.74650954T>C	GRCh37
NC_000005.8:g.74686710T>C	NCBI36
NG_011449.1:g.22962T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287936.9:c.1637T>C MANE Select	ENSP00000287936.4:p.Leu546Ser
ENST00000679456.1:n.2474T>C
ENST00000680160.1:c.1637T>C	ENSP00000505315.1:p.Leu546Ser
ENST00000680940.1:c.1637T>C	ENSP00000505561.1:p.Leu546Ser
ENST00000681271.1:c.1637T>C	ENSP00000505805.1:p.Leu546Ser
ENST00000681410.1:c.1637T>C	ENSP00000506232.1:p.Leu546Ser
ENST00000681567.1:c.*2186T>C	ENSP00000506708.1:n.*2186T>C
ENST00000287936.8:c.1637T>C	ENSP00000287936.4:p.Leu546Ser
ENST00000343975.9:c.1564-236T>C	ENSP00000340816.5:n.1564-236T>C
ENST00000511206.5:c.1637T>C	ENSP00000426745.1:p.Leu546Ser
ENST00000515776.1:n.464T>C
NM_000859.2:c.1637T>C	NP_000850.1:p.Leu546Ser
NM_001130996.1:c.1564-236T>C	NP_001124468.1:n.1564-236T>C
XM_011543357.1:c.1697T>C	XP_011541659.1:p.Leu566Ser
XM_011543358.1:c.1637T>C	XP_011541660.1:p.Leu546Ser
XM_011543359.1:c.1624-236T>C	XP_011541661.1:n.1624-236T>C
NM_001364187.1:c.1637T>C	NP_001351116.1:p.Leu546Ser
NM_000859.3:c.1637T>C MANE Select	NP_000850.1:p.Leu546Ser
NM_001130996.2:c.1564-236T>C	NP_001124468.1:n.1564-236T>C