Canonical Allele Identifier: CA404093163

Gene: LDLR

Linked Data

• ClinVar Variation Id: 927435
• ClinVar RCV Id: RCV001190740 ; RCV002504209
• dbSNP Id: rs730882111
• MyVariant Identifiers: chr19:g.11230876A>T (hg19) ; chr19:g.11120200A>T (hg38)
• ERepo: CA404093163/MONDO:0007750/013

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120200A>T , CM000681.2:g.11120200A>T	GRCh38
NC_000019.9:g.11230876A>T , CM000681.1:g.11230876A>T	GRCh37
NC_000019.8:g.11091876A>T	NCBI36
NG_009060.1:g.35820A>T , LRG_274:g.35820A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2212A>T	ENSP00000252444.6:p.Met738Leu
ENST00000559340.2:c.*23A>T	ENSP00000453696.2:n.*23A>T
ENST00000560467.2:c.1834A>T	ENSP00000453513.2:p.Met612Leu
ENST00000558518.6:c.1954A>T MANE Select	ENSP00000454071.1:p.Met652Leu
ENST00000252444.9:c.2208A>T
ENST00000455727.6:c.1450A>T	ENSP00000397829.2:p.Met484Leu
ENST00000535915.5:c.1831A>T	ENSP00000440520.1:p.Met611Leu
ENST00000545707.5:c.1573A>T	ENSP00000437639.1:p.Met525Leu
ENST00000557933.5:c.1954A>T	ENSP00000453557.1:p.Met652Leu
ENST00000558013.5:c.1954A>T	ENSP00000453346.1:p.Met652Leu
ENST00000558518.5:c.1954A>T	ENSP00000454071.1:p.Met652Leu
ENST00000559340.1:c.535A>T
NM_000527.4:c.1954A>T , LRG_274t1:c.1954A>T	NP_000518.1:p.Met652Leu
NM_001195798.1:c.1954A>T	NP_001182727.1:p.Met652Leu
NM_001195799.1:c.1831A>T	NP_001182728.1:p.Met611Leu
NM_001195800.1:c.1450A>T	NP_001182729.1:p.Met484Leu
NM_001195803.1:c.1573A>T	NP_001182732.1:p.Met525Leu
XM_011528010.1:c.1954A>T	XP_011526312.1:p.Met652Leu
XM_011528011.1:c.1573A>T	XP_011526313.1:p.Met525Leu
XR_244074.2:n.1964A>T
XM_011528010.2:c.1954A>T	XP_011526312.1:p.Met652Leu
XR_001753685.2:n.2071A>T
XR_001753686.2:n.1931A>T
NM_000527.5:c.1954A>T MANE Select	NP_000518.1:p.Met652Leu
NM_001195798.2:c.1954A>T	NP_001182727.1:p.Met652Leu
NM_001195799.2:c.1831A>T	NP_001182728.1:p.Met611Leu
NM_001195800.2:c.1450A>T	NP_001182729.1:p.Met484Leu
NM_001195803.2:c.1573A>T	NP_001182732.1:p.Met525Leu