Canonical Allele Identifier: CA16616207

Gene: LDLR

Linked Data

• ClinVar Variation Id: 413775
• ClinVar RCV Id: RCV000461453 ; RCV001182219 ; RCV001269166 ; RCV002429582
• dbSNP Id: rs372828849
• gnomAD v2: 19-11213419-T-C
• gnomAD v3: 19-11102743-T-C
• gnomAD v4: 19-11102743-T-C
• MyVariant Identifiers: chr19:g.11213419T>C (hg19) ; chr19:g.11102743T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11102743T>C , CM000681.2:g.11102743T>C	GRCh38
NC_000019.9:g.11213419T>C , CM000681.1:g.11213419T>C	GRCh37
NC_000019.8:g.11074419T>C	NCBI36
NG_009060.1:g.18363T>C , LRG_274:g.18363T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.528T>C	ENSP00000252444.6:p.Asp176=
ENST00000559340.2:c.270T>C	ENSP00000453696.2:p.Asp90=
ENST00000560467.2:c.270T>C	ENSP00000453513.2:p.Asp90=
ENST00000558518.6:c.270T>C MANE Select	ENSP00000454071.1:p.Asp90=
ENST00000252444.9:c.524T>C
ENST00000455727.6:c.270T>C	ENSP00000397829.2:p.Asp90=
ENST00000535915.5:c.190+2398T>C	ENSP00000440520.1:n.190+2398T>C
ENST00000545707.5:c.270T>C	ENSP00000437639.1:p.Asp90=
ENST00000557933.5:c.270T>C	ENSP00000453557.1:p.Asp90=
ENST00000557958.1:n.356T>C
ENST00000558013.5:c.270T>C	ENSP00000453346.1:p.Asp90=
ENST00000558518.5:c.270T>C	ENSP00000454071.1:p.Asp90=
NM_000527.4:c.270T>C , LRG_274t1:c.270T>C	NP_000518.1:p.Asp90=
NM_001195798.1:c.270T>C	NP_001182727.1:p.Asp90=
NM_001195799.1:c.190+2398T>C	NP_001182728.1:n.190+2398T>C
NM_001195800.1:c.270T>C	NP_001182729.1:p.Asp90=
NM_001195803.1:c.270T>C	NP_001182732.1:p.Asp90=
XM_011528010.1:c.270T>C	XP_011526312.1:p.Asp90=
XM_011528011.1:c.270T>C	XP_011526313.1:p.Asp90=
XR_244074.2:n.420T>C
XM_011528010.2:c.270T>C	XP_011526312.1:p.Asp90=
XR_001753685.2:n.387T>C
XR_001753686.2:n.387T>C
NM_000527.5:c.270T>C MANE Select	NP_000518.1:p.Asp90=
NM_001195798.2:c.270T>C	NP_001182727.1:p.Asp90=
NM_001195799.2:c.190+2398T>C	NP_001182728.1:n.190+2398T>C
NM_001195800.2:c.270T>C	NP_001182729.1:p.Asp90=
NM_001195803.2:c.270T>C	NP_001182732.1:p.Asp90=