Canonical Allele Identifier: CA404083889

Gene: LDLR

Linked Data

• ClinVar Variation Id: 923620
• ClinVar RCV Id: RCV001184447
• dbSNP Id: rs2077378748
• MyVariant Identifiers: chr19:g.11222298A>G (hg19) ; chr19:g.11111622A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11111622A>G , CM000681.2:g.11111622A>G	GRCh38
NC_000019.9:g.11222298A>G , CM000681.1:g.11222298A>G	GRCh37
NC_000019.8:g.11083298A>G	NCBI36
NG_009060.1:g.27242A>G , LRG_274:g.27242A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1427A>G	ENSP00000252444.6:p.Lys476Arg
ENST00000559340.2:c.1169A>G	ENSP00000453696.2:p.Lys390Arg
ENST00000560467.2:c.1049A>G	ENSP00000453513.2:p.Lys350Arg
ENST00000558518.6:c.1169A>G MANE Select	ENSP00000454071.1:p.Lys390Arg
ENST00000252444.9:c.1423A>G
ENST00000455727.6:c.665A>G	ENSP00000397829.2:p.Lys222Arg
ENST00000535915.5:c.1046A>G	ENSP00000440520.1:p.Lys349Arg
ENST00000545707.5:c.788A>G	ENSP00000437639.1:p.Lys263Arg
ENST00000557933.5:c.1169A>G	ENSP00000453557.1:p.Lys390Arg
ENST00000558013.5:c.1169A>G	ENSP00000453346.1:p.Lys390Arg
ENST00000558518.5:c.1169A>G	ENSP00000454071.1:p.Lys390Arg
ENST00000560173.1:n.168A>G
ENST00000560467.1:c.649A>G
NM_000527.4:c.1169A>G , LRG_274t1:c.1169A>G	NP_000518.1:p.Lys390Arg
NM_001195798.1:c.1169A>G	NP_001182727.1:p.Lys390Arg
NM_001195799.1:c.1046A>G	NP_001182728.1:p.Lys349Arg
NM_001195800.1:c.665A>G	NP_001182729.1:p.Lys222Arg
NM_001195803.1:c.788A>G	NP_001182732.1:p.Lys263Arg
XM_011528010.1:c.1169A>G	XP_011526312.1:p.Lys390Arg
XM_011528011.1:c.788A>G	XP_011526313.1:p.Lys263Arg
XR_244074.2:n.1319A>G
XM_011528010.2:c.1169A>G	XP_011526312.1:p.Lys390Arg
XR_001753685.2:n.1286A>G
XR_001753686.2:n.1286A>G
NM_000527.5:c.1169A>G MANE Select	NP_000518.1:p.Lys390Arg
NM_001195798.2:c.1169A>G	NP_001182727.1:p.Lys390Arg
NM_001195799.2:c.1046A>G	NP_001182728.1:p.Lys349Arg
NM_001195800.2:c.665A>G	NP_001182729.1:p.Lys222Arg
NM_001195803.2:c.788A>G	NP_001182732.1:p.Lys263Arg