Canonical Allele Identifier: CA10576291

Gene: LDLR

Linked Data

• ClinVar Variation Id: 226337
• ClinVar RCV Id: RCV000211683 ; RCV000786353 ; RCV001179372 ; RCV002372215
• gnomAD v4: 19-11107491-C-T
• MyVariant Identifiers: chr19:g.11218167C>T (hg19) ; chr19:g.11107491C>T (hg38)
• PubMed: PMID:1301956 ; PMID:7489239 ; PMID:10532689 ; PMID:15199436 ; PMID:20506408 ; PMID:27765764

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11107491C>T , CM000681.2:g.11107491C>T	GRCh38
NC_000019.9:g.11218167C>T , CM000681.1:g.11218167C>T	GRCh37
NC_000019.8:g.11079167C>T	NCBI36
NG_009060.1:g.23111C>T , LRG_274:g.23111C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1175C>T	ENSP00000252444.6:p.Ser392Leu
ENST00000559340.2:c.917C>T	ENSP00000453696.2:p.Ser306Leu
ENST00000560467.2:c.917C>T	ENSP00000453513.2:p.Ser306Leu
ENST00000558518.6:c.917C>T MANE Select	ENSP00000454071.1:p.Ser306Leu
ENST00000252444.9:c.1171C>T
ENST00000455727.6:c.413C>T	ENSP00000397829.2:p.Ser138Leu
ENST00000535915.5:c.794C>T	ENSP00000440520.1:p.Ser265Leu
ENST00000545707.5:c.536C>T	ENSP00000437639.1:p.Ser179Leu
ENST00000557933.5:c.917C>T	ENSP00000453557.1:p.Ser306Leu
ENST00000558013.5:c.917C>T	ENSP00000453346.1:p.Ser306Leu
ENST00000558518.5:c.917C>T	ENSP00000454071.1:p.Ser306Leu
ENST00000558528.1:n.432C>T
ENST00000560467.1:c.517C>T
NM_000527.4:c.917C>T , LRG_274t1:c.917C>T	NP_000518.1:p.Ser306Leu
NM_001195798.1:c.917C>T	NP_001182727.1:p.Ser306Leu
NM_001195799.1:c.794C>T	NP_001182728.1:p.Ser265Leu
NM_001195800.1:c.413C>T	NP_001182729.1:p.Ser138Leu
NM_001195803.1:c.536C>T	NP_001182732.1:p.Ser179Leu
XM_011528010.1:c.917C>T	XP_011526312.1:p.Ser306Leu
XM_011528011.1:c.536C>T	XP_011526313.1:p.Ser179Leu
XR_244074.2:n.1067C>T
XM_011528010.2:c.917C>T	XP_011526312.1:p.Ser306Leu
XR_001753685.2:n.1034C>T
XR_001753686.2:n.1034C>T
NM_000527.5:c.917C>T MANE Select	NP_000518.1:p.Ser306Leu
NM_001195798.2:c.917C>T	NP_001182727.1:p.Ser306Leu
NM_001195799.2:c.794C>T	NP_001182728.1:p.Ser265Leu
NM_001195800.2:c.413C>T	NP_001182729.1:p.Ser138Leu
NM_001195803.2:c.536C>T	NP_001182732.1:p.Ser179Leu