Canonical Allele Identifier: CA404086122

Gene: LDLR

Linked Data

• MyVariant Identifiers: chr19:g.11224303T>G (hg19) ; chr19:g.11113627T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113627T>G , CM000681.2:g.11113627T>G	GRCh38
NC_000019.9:g.11224303T>G , CM000681.1:g.11224303T>G	GRCh37
NC_000019.8:g.11085303T>G	NCBI36
NG_009060.1:g.29247T>G , LRG_274:g.29247T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1709T>G	ENSP00000252444.6:p.Ile570Ser
ENST00000559340.2:c.1451T>G	ENSP00000453696.2:p.Ile484Ser
ENST00000560467.2:c.1331T>G	ENSP00000453513.2:p.Ile444Ser
ENST00000558518.6:c.1451T>G MANE Select	ENSP00000454071.1:p.Ile484Ser
ENST00000252444.9:c.1705T>G
ENST00000455727.6:c.947T>G	ENSP00000397829.2:p.Ile316Ser
ENST00000535915.5:c.1328T>G	ENSP00000440520.1:p.Ile443Ser
ENST00000545707.5:c.1070T>G	ENSP00000437639.1:p.Ile357Ser
ENST00000557933.5:c.1451T>G	ENSP00000453557.1:p.Ile484Ser
ENST00000558013.5:c.1451T>G	ENSP00000453346.1:p.Ile484Ser
ENST00000558518.5:c.1451T>G	ENSP00000454071.1:p.Ile484Ser
ENST00000559340.1:c.172T>G
NM_000527.4:c.1451T>G , LRG_274t1:c.1451T>G	NP_000518.1:p.Ile484Ser
NM_001195798.1:c.1451T>G	NP_001182727.1:p.Ile484Ser
NM_001195799.1:c.1328T>G	NP_001182728.1:p.Ile443Ser
NM_001195800.1:c.947T>G	NP_001182729.1:p.Ile316Ser
NM_001195803.1:c.1070T>G	NP_001182732.1:p.Ile357Ser
XM_011528010.1:c.1451T>G	XP_011526312.1:p.Ile484Ser
XM_011528011.1:c.1070T>G	XP_011526313.1:p.Ile357Ser
XR_244074.2:n.1601T>G
XM_011528010.2:c.1451T>G	XP_011526312.1:p.Ile484Ser
XR_001753685.2:n.1568T>G
XR_001753686.2:n.1568T>G
NM_000527.5:c.1451T>G MANE Select	NP_000518.1:p.Ile484Ser
NM_001195798.2:c.1451T>G	NP_001182727.1:p.Ile484Ser
NM_001195799.2:c.1328T>G	NP_001182728.1:p.Ile443Ser
NM_001195800.2:c.947T>G	NP_001182729.1:p.Ile316Ser
NM_001195803.2:c.1070T>G	NP_001182732.1:p.Ile357Ser