Canonical Allele Identifier: CA10585294

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251653
• ClinVar RCV Id: RCV000238343 ; RCV002518483
• dbSNP Id: rs879254784
• gnomAD v4: 19-11111528-C-T
• MyVariant Identifiers: chr19:g.11222204C>T (hg19) ; chr19:g.11111528C>T (hg38)
• PubMed: PMID:1301956 ; PMID:23375686

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11111528C>T , CM000681.2:g.11111528C>T	GRCh38
NC_000019.9:g.11222204C>T , CM000681.1:g.11222204C>T	GRCh37
NC_000019.8:g.11083204C>T	NCBI36
NG_009060.1:g.27148C>T , LRG_274:g.27148C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1333C>T	ENSP00000252444.6:p.Gln445Ter
ENST00000559340.2:c.1075C>T	ENSP00000453696.2:p.Gln359Ter
ENST00000560467.2:c.955C>T	ENSP00000453513.2:p.Gln319Ter
ENST00000558518.6:c.1075C>T MANE Select	ENSP00000454071.1:p.Gln359Ter
ENST00000252444.9:c.1329C>T
ENST00000455727.6:c.571C>T	ENSP00000397829.2:p.Gln191Ter
ENST00000535915.5:c.952C>T	ENSP00000440520.1:p.Gln318Ter
ENST00000545707.5:c.694C>T	ENSP00000437639.1:p.Gln232Ter
ENST00000557933.5:c.1075C>T	ENSP00000453557.1:p.Gln359Ter
ENST00000558013.5:c.1075C>T	ENSP00000453346.1:p.Gln359Ter
ENST00000558518.5:c.1075C>T	ENSP00000454071.1:p.Gln359Ter
ENST00000560173.1:n.74C>T
ENST00000560467.1:c.555C>T
NM_000527.4:c.1075C>T , LRG_274t1:c.1075C>T	NP_000518.1:p.Gln359Ter
NM_001195798.1:c.1075C>T	NP_001182727.1:p.Gln359Ter
NM_001195799.1:c.952C>T	NP_001182728.1:p.Gln318Ter
NM_001195800.1:c.571C>T	NP_001182729.1:p.Gln191Ter
NM_001195803.1:c.694C>T	NP_001182732.1:p.Gln232Ter
XM_011528010.1:c.1075C>T	XP_011526312.1:p.Gln359Ter
XM_011528011.1:c.694C>T	XP_011526313.1:p.Gln232Ter
XR_244074.2:n.1225C>T
XM_011528010.2:c.1075C>T	XP_011526312.1:p.Gln359Ter
XR_001753685.2:n.1192C>T
XR_001753686.2:n.1192C>T
NM_000527.5:c.1075C>T MANE Select	NP_000518.1:p.Gln359Ter
NM_001195798.2:c.1075C>T	NP_001182727.1:p.Gln359Ter
NM_001195799.2:c.952C>T	NP_001182728.1:p.Gln318Ter
NM_001195800.2:c.571C>T	NP_001182729.1:p.Gln191Ter
NM_001195803.2:c.694C>T	NP_001182732.1:p.Gln232Ter