Canonical Allele Identifier: CA3308715

Gene: HMGCR

Linked Data

• dbSNP Id: rs755924462
• ExAC: 5:74651085 G / C
• gnomAD v2: 5-74651085-G-C
• gnomAD v3: 5-75355260-G-C
• gnomAD v4: 5-75355260-G-C
• MyVariant Identifiers: chr5:g.74651085G>C (hg19) ; chr5:g.75355260G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75355260G>C , CM000667.2:g.75355260G>C	GRCh38
NC_000005.9:g.74651085G>C , CM000667.1:g.74651085G>C	GRCh37
NC_000005.8:g.74686841G>C	NCBI36
NG_011449.1:g.23093G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287936.9:c.1722+46G>C MANE Select	ENSP00000287936.4:n.1722+46G>C
ENST00000679456.1:n.2559+46G>C
ENST00000680160.1:c.1722+46G>C	ENSP00000505315.1:n.1722+46G>C
ENST00000680940.1:c.1722+46G>C	ENSP00000505561.1:n.1722+46G>C
ENST00000681271.1:c.1722+46G>C	ENSP00000505805.1:n.1722+46G>C
ENST00000681410.1:c.1722+46G>C	ENSP00000506232.1:n.1722+46G>C
ENST00000681567.1:c.*2271+46G>C	ENSP00000506708.1:n.*2271+46G>C
ENST00000287936.8:c.1722+46G>C	ENSP00000287936.4:n.1722+46G>C
ENST00000343975.9:c.1564-105G>C	ENSP00000340816.5:n.1564-105G>C
ENST00000508070.1:n.81G>C
ENST00000511206.5:c.1722+46G>C	ENSP00000426745.1:n.1722+46G>C
NM_000859.2:c.1722+46G>C	NP_000850.1:n.1722+46G>C
NM_001130996.1:c.1564-105G>C	NP_001124468.1:n.1564-105G>C
XM_011543357.1:c.1782+46G>C	XP_011541659.1:n.1782+46G>C
XM_011543358.1:c.1722+46G>C	XP_011541660.1:n.1722+46G>C
XM_011543359.1:c.1624-105G>C	XP_011541661.1:n.1624-105G>C
NM_001364187.1:c.1722+46G>C	NP_001351116.1:n.1722+46G>C
NM_000859.3:c.1722+46G>C MANE Select	NP_000850.1:n.1722+46G>C
NM_001130996.2:c.1564-105G>C	NP_001124468.1:n.1564-105G>C