Canonical Allele Identifier: CA404084750

Gene: LDLR

Linked Data

• ClinVar Variation Id: 2775431
• ClinVar RCV Id: RCV003526646
• MyVariant Identifiers: chr19:g.11224008T>A (hg19) ; chr19:g.11113332T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113332T>A , CM000681.2:g.11113332T>A	GRCh38
NC_000019.9:g.11224008T>A , CM000681.1:g.11224008T>A	GRCh37
NC_000019.8:g.11085008T>A	NCBI36
NG_009060.1:g.28952T>A , LRG_274:g.28952T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1499T>A	ENSP00000252444.6:p.Leu500Gln
ENST00000559340.2:c.1241T>A	ENSP00000453696.2:p.Leu414Gln
ENST00000560467.2:c.1121T>A	ENSP00000453513.2:p.Leu374Gln
ENST00000558518.6:c.1241T>A MANE Select	ENSP00000454071.1:p.Leu414Gln
ENST00000252444.9:c.1495T>A
ENST00000455727.6:c.737T>A	ENSP00000397829.2:p.Leu246Gln
ENST00000535915.5:c.1118T>A	ENSP00000440520.1:p.Leu373Gln
ENST00000545707.5:c.860T>A	ENSP00000437639.1:p.Leu287Gln
ENST00000557933.5:c.1241T>A	ENSP00000453557.1:p.Leu414Gln
ENST00000558013.5:c.1241T>A	ENSP00000453346.1:p.Leu414Gln
ENST00000558518.5:c.1241T>A	ENSP00000454071.1:p.Leu414Gln
ENST00000560173.1:n.240T>A
ENST00000560467.1:c.721T>A
NM_000527.4:c.1241T>A , LRG_274t1:c.1241T>A	NP_000518.1:p.Leu414Gln
NM_001195798.1:c.1241T>A	NP_001182727.1:p.Leu414Gln
NM_001195799.1:c.1118T>A	NP_001182728.1:p.Leu373Gln
NM_001195800.1:c.737T>A	NP_001182729.1:p.Leu246Gln
NM_001195803.1:c.860T>A	NP_001182732.1:p.Leu287Gln
XM_011528010.1:c.1241T>A	XP_011526312.1:p.Leu414Gln
XM_011528011.1:c.860T>A	XP_011526313.1:p.Leu287Gln
XR_244074.2:n.1391T>A
XM_011528010.2:c.1241T>A	XP_011526312.1:p.Leu414Gln
XR_001753685.2:n.1358T>A
XR_001753686.2:n.1358T>A
NM_000527.5:c.1241T>A MANE Select	NP_000518.1:p.Leu414Gln
NM_001195798.2:c.1241T>A	NP_001182727.1:p.Leu414Gln
NM_001195799.2:c.1118T>A	NP_001182728.1:p.Leu373Gln
NM_001195800.2:c.737T>A	NP_001182729.1:p.Leu246Gln
NM_001195803.2:c.860T>A	NP_001182732.1:p.Leu287Gln