Canonical Allele Identifier: CA16043073

Gene: LDLR

Linked Data

• ClinVar Variation Id: 373430
• ClinVar RCV Id: RCV000413896 ; RCV001299282
• dbSNP Id: rs137943601
• MyVariant Identifiers: chr19:g.11223989G>C (hg19) ; chr19:g.11113313G>C (hg38)
• ERepo: CA16043073/MONDO:0007750/013

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113313G>C , CM000681.2:g.11113313G>C	GRCh38
NC_000019.9:g.11223989G>C , CM000681.1:g.11223989G>C	GRCh37
NC_000019.8:g.11084989G>C	NCBI36
NG_009060.1:g.28933G>C , LRG_274:g.28933G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1480G>C	ENSP00000252444.6:p.Glu494Gln
ENST00000559340.2:c.1222G>C	ENSP00000453696.2:p.Glu408Gln
ENST00000560467.2:c.1102G>C	ENSP00000453513.2:p.Glu368Gln
ENST00000558518.6:c.1222G>C MANE Select	ENSP00000454071.1:p.Glu408Gln
ENST00000252444.9:c.1476G>C
ENST00000455727.6:c.718G>C	ENSP00000397829.2:p.Glu240Gln
ENST00000535915.5:c.1099G>C	ENSP00000440520.1:p.Glu367Gln
ENST00000545707.5:c.841G>C	ENSP00000437639.1:p.Glu281Gln
ENST00000557933.5:c.1222G>C	ENSP00000453557.1:p.Glu408Gln
ENST00000558013.5:c.1222G>C	ENSP00000453346.1:p.Glu408Gln
ENST00000558518.5:c.1222G>C	ENSP00000454071.1:p.Glu408Gln
ENST00000560173.1:n.221G>C
ENST00000560467.1:c.702G>C
NM_000527.4:c.1222G>C , LRG_274t1:c.1222G>C	NP_000518.1:p.Glu408Gln
NM_001195798.1:c.1222G>C	NP_001182727.1:p.Glu408Gln
NM_001195799.1:c.1099G>C	NP_001182728.1:p.Glu367Gln
NM_001195800.1:c.718G>C	NP_001182729.1:p.Glu240Gln
NM_001195803.1:c.841G>C	NP_001182732.1:p.Glu281Gln
XM_011528010.1:c.1222G>C	XP_011526312.1:p.Glu408Gln
XM_011528011.1:c.841G>C	XP_011526313.1:p.Glu281Gln
XR_244074.2:n.1372G>C
XM_011528010.2:c.1222G>C	XP_011526312.1:p.Glu408Gln
XR_001753685.2:n.1339G>C
XR_001753686.2:n.1339G>C
NM_000527.5:c.1222G>C MANE Select	NP_000518.1:p.Glu408Gln
NM_001195798.2:c.1222G>C	NP_001182727.1:p.Glu408Gln
NM_001195799.2:c.1099G>C	NP_001182728.1:p.Glu367Gln
NM_001195800.2:c.718G>C	NP_001182729.1:p.Glu240Gln
NM_001195803.2:c.841G>C	NP_001182732.1:p.Glu281Gln