Canonical Allele Identifier: CA404084857

Gene: LDLR

Linked Data

• dbSNP Id: rs879254850
• gnomAD v2: 19-11224041-A-G
• gnomAD v4: 19-11113365-A-G
• MyVariant Identifiers: chr19:g.11224041A>G (hg19) ; chr19:g.11113365A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113365A>G , CM000681.2:g.11113365A>G	GRCh38
NC_000019.9:g.11224041A>G , CM000681.1:g.11224041A>G	GRCh37
NC_000019.8:g.11085041A>G	NCBI36
NG_009060.1:g.28985A>G , LRG_274:g.28985A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1532A>G	ENSP00000252444.6:p.Asn511Ser
ENST00000559340.2:c.1274A>G	ENSP00000453696.2:p.Asn425Ser
ENST00000560467.2:c.1154A>G	ENSP00000453513.2:p.Asn385Ser
ENST00000558518.6:c.1274A>G MANE Select	ENSP00000454071.1:p.Asn425Ser
ENST00000252444.9:c.1528A>G
ENST00000455727.6:c.770A>G	ENSP00000397829.2:p.Asn257Ser
ENST00000535915.5:c.1151A>G	ENSP00000440520.1:p.Asn384Ser
ENST00000545707.5:c.893A>G	ENSP00000437639.1:p.Asn298Ser
ENST00000557933.5:c.1274A>G	ENSP00000453557.1:p.Asn425Ser
ENST00000558013.5:c.1274A>G	ENSP00000453346.1:p.Asn425Ser
ENST00000558518.5:c.1274A>G	ENSP00000454071.1:p.Asn425Ser
ENST00000560173.1:n.273A>G
ENST00000560467.1:c.754A>G
NM_000527.4:c.1274A>G , LRG_274t1:c.1274A>G	NP_000518.1:p.Asn425Ser
NM_001195798.1:c.1274A>G	NP_001182727.1:p.Asn425Ser
NM_001195799.1:c.1151A>G	NP_001182728.1:p.Asn384Ser
NM_001195800.1:c.770A>G	NP_001182729.1:p.Asn257Ser
NM_001195803.1:c.893A>G	NP_001182732.1:p.Asn298Ser
XM_011528010.1:c.1274A>G	XP_011526312.1:p.Asn425Ser
XM_011528011.1:c.893A>G	XP_011526313.1:p.Asn298Ser
XR_244074.2:n.1424A>G
XM_011528010.2:c.1274A>G	XP_011526312.1:p.Asn425Ser
XR_001753685.2:n.1391A>G
XR_001753686.2:n.1391A>G
NM_000527.5:c.1274A>G MANE Select	NP_000518.1:p.Asn425Ser
NM_001195798.2:c.1274A>G	NP_001182727.1:p.Asn425Ser
NM_001195799.2:c.1151A>G	NP_001182728.1:p.Asn384Ser
NM_001195800.2:c.770A>G	NP_001182729.1:p.Asn257Ser
NM_001195803.2:c.893A>G	NP_001182732.1:p.Asn298Ser